Canonical Allele Identifier: CA073041
Community Standard Title: NM_053025.4(MYLK):c.5501-11_5501-10del
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123614359_123614360del , CM000665.2:g.123614359_123614360del GRCh38
NC_000003.11:g.123333206_123333207del , CM000665.1:g.123333206_123333207del GRCh37
NC_000003.10:g.124815896_124815897del NCBI36
NG_029111.1:g.274943_274944del

Transcript Alleles

HGVS Amino-acid Change
NM_053025.4:c.5501-11_5501-10del (MYLK) MANE Select NP_444253.3:n.5501-11_5501-10del
ENST00000360304.8:c.5501-11_5501-10del (MYLK) MANE Select ENSP00000353452.3:n.5501-11_5501-10del
NM_001321309.1:c.4973-11_4973-10del (MYLK) NP_001308238.1:n.4973-11_4973-10del
NM_001321309.2:c.4973-11_4973-10del (MYLK) NP_001308238.1:n.4973-11_4973-10del
NM_053025.3:c.5501-11_5501-10del (MYLK) NP_444253.3:n.5501-11_5501-10del
NM_053026.3:c.5294-11_5294-10del (MYLK) NP_444254.3:n.5294-11_5294-10del
NM_053026.4:c.5294-11_5294-10del (MYLK) NP_444254.3:n.5294-11_5294-10del
NM_053027.3:c.5348-11_5348-10del (MYLK) NP_444255.3:n.5348-11_5348-10del
NM_053027.4:c.5348-11_5348-10del (MYLK) NP_444255.3:n.5348-11_5348-10del
NM_053028.3:c.5141-11_5141-10del (MYLK) NP_444256.3:n.5141-11_5141-10del
NM_053028.4:c.5141-11_5141-10del (MYLK) NP_444256.3:n.5141-11_5141-10del
NM_053031.2:c.218-11_218-10del (MYLK) NP_444259.1:n.218-11_218-10del
NM_053031.3:c.218-11_218-10del (MYLK) NP_444259.1:n.218-11_218-10del
NM_053031.4:c.218-11_218-10del (MYLK) NP_444259.1:n.218-11_218-10del
NM_053032.2:c.221-11_221-10del (MYLK) NP_444260.1:n.221-11_221-10del
NM_053032.3:c.221-11_221-10del (MYLK) NP_444260.1:n.221-11_221-10del
NM_053032.4:c.221-11_221-10del (MYLK) NP_444260.1:n.221-11_221-10del
NR_038266.2:n.290-15135_290-15134del (MYLK-AS1)
NR_121654.1:n.197-15135_197-15134del (MYLK-AS1)
ENST00000346322.10:c.5141-11_5141-10del (MYLK) ENSP00000320622.6:n.5141-11_5141-10del
ENST00000346322.9:c.5294-11_5294-10del (MYLK) ENSP00000320622.5:n.5294-11_5294-10del
ENST00000354792.9:c.5294-11_5294-10del (MYLK) ENSP00000346846.6:n.5294-11_5294-10del
ENST00000359169.5:c.5348-11_5348-10del (MYLK) ENSP00000352088.1:n.5348-11_5348-10del
ENST00000360304.7:c.5501-11_5501-10del (MYLK) ENSP00000353452.3:n.5501-11_5501-10del
ENST00000360772.7:c.5348-11_5348-10del (MYLK) ENSP00000354004.3:n.5348-11_5348-10del
ENST00000418370.6:c.221-11_221-10del (MYLK) ENSP00000428967.1:n.221-11_221-10del
ENST00000464489.5:c.*5080-11_*5080-10del (MYLK) ENSP00000417798.1:n.*5080-11_*5080-10del
ENST00000475616.5:c.5501-11_5501-10del (MYLK) ENSP00000418335.1:n.5501-11_5501-10del
ENST00000508240.2:c.1901-11_1901-10del (MYLK) ENSP00000422984.2:n.1901-11_1901-10del
ENST00000578202.1:c.218-11_218-10del (MYLK) ENSP00000463691.1:n.218-11_218-10del
ENST00000578202.2:c.244_245del (MYLK) ENSP00000463691.2:p.Leu82ValfsTer27
ENST00000583087.5:c.221-11_221-10del (MYLK) ENSP00000462118.1:n.221-11_221-10del
ENST00000583087.6:c.221-11_221-10del (MYLK) ENSP00000462118.1:n.221-11_221-10del
ENST00000684882.1:c.*108-11_*108-10del (MYLK) ENSP00000510459.1:n.*108-11_*108-10del
ENST00000685021.1:c.2735-11_2735-10del (MYLK) ENSP00000508447.1:n.2735-11_2735-10del
ENST00000685170.1:n.714-11_714-10del (MYLK)
ENST00000685259.1:c.3020-11_3020-10del (MYLK)
ENST00000685744.1:c.218-11_218-10del (MYLK) ENSP00000510047.1:n.218-11_218-10del
ENST00000685907.1:n.3282-11_3282-10del (MYLK)
ENST00000685953.1:c.1898-11_1898-10del (MYLK) ENSP00000510593.1:n.1898-11_1898-10del
ENST00000686039.1:c.2885-11_2885-10del (MYLK)
ENST00000686245.1:c.2618-11_2618-10del (MYLK) ENSP00000509313.1:n.2618-11_2618-10del
ENST00000686281.1:n.793-11_793-10del (MYLK)
ENST00000686406.1:c.5498-11_5498-10del (MYLK) ENSP00000509044.1:n.5498-11_5498-10del
ENST00000686458.1:n.2003-11_2003-10del (MYLK)
ENST00000686761.1:c.5501-11_5501-10del (MYLK) ENSP00000508758.1:n.5501-11_5501-10del
ENST00000687375.1:c.218-11_218-10del (MYLK) ENSP00000509867.1:n.218-11_218-10del
ENST00000687434.1:c.*1717-11_*1717-10del (MYLK) ENSP00000509751.1:n.*1717-11_*1717-10del
ENST00000687709.1:n.3556-11_3556-10del (MYLK)
ENST00000687848.1:c.5531-11_5531-10del (MYLK) ENSP00000508761.1:n.5531-11_5531-10del
ENST00000688024.1:c.2732-11_2732-10del (MYLK) ENSP00000509803.1:n.2732-11_2732-10del
ENST00000688223.1:c.2531-11_2531-10del (MYLK) ENSP00000508935.1:n.2531-11_2531-10del
ENST00000689446.1:n.703-11_703-10del (MYLK)
ENST00000689868.1:n.5761-11_5761-10del (MYLK)
ENST00000689918.1:n.1576-11_1576-10del (MYLK)
ENST00000690086.1:n.1602-11_1602-10del (MYLK)
ENST00000690167.1:n.3169-11_3169-10del (MYLK)
ENST00000690457.1:c.4739-11_4739-10del (MYLK) ENSP00000508777.1:n.4739-11_4739-10del
ENST00000690534.1:n.2022-11_2022-10del (MYLK)
ENST00000690656.1:n.206-11_206-10del (MYLK)
ENST00000691367.1:n.197-11_197-10del (MYLK)
ENST00000691933.1:c.3125-11_3125-10del (MYLK)
ENST00000692356.1:c.89-248_89-247del (MYLK) ENSP00000509805.1:n.89-248_89-247del
ENST00000692507.1:n.1294_1295del (MYLK)
ENST00000693689.1:c.5294-11_5294-10del (MYLK) ENSP00000510503.1:n.5294-11_5294-10del
XM_011512860.1:c.5498-11_5498-10del (MYLK) XP_011511162.1:n.5498-11_5498-10del
XM_011512860.3:c.5528-11_5528-10del (MYLK) XP_011511162.2:n.5528-11_5528-10del
XM_011512861.1:c.5297-11_5297-10del (MYLK) XP_011511163.1:n.5297-11_5297-10del
XM_011512861.3:c.5327-11_5327-10del (MYLK) XP_011511163.2:n.5327-11_5327-10del
XM_011512862.1:c.4973-11_4973-10del (MYLK) XP_011511164.1:n.4973-11_4973-10del
XM_017006469.2:c.2732-11_2732-10del (MYLK) XP_016861958.1:n.2732-11_2732-10del
XM_017006470.2:c.1898-11_1898-10del (MYLK) XP_016861959.1:n.1898-11_1898-10del
XM_017006471.2:c.1901-11_1901-10del (MYLK) XP_016861960.1:n.1901-11_1901-10del
XM_017006472.2:c.221-11_221-10del (MYLK) XP_016861961.1:n.221-11_221-10del
XM_017006473.1:c.218-11_218-10del (MYLK) XP_016861962.1:n.218-11_218-10del
XM_024453532.1:c.5531-11_5531-10del (MYLK) XP_024309300.1:n.5531-11_5531-10del
XM_024453533.1:c.5501-11_5501-10del (MYLK) XP_024309301.1:n.5501-11_5501-10del
XM_024453534.1:c.5324-11_5324-10del (MYLK) XP_024309302.1:n.5324-11_5324-10del
XM_024453535.1:c.5294-11_5294-10del (MYLK) XP_024309303.1:n.5294-11_5294-10del
XM_024453536.1:c.5501-11_5501-10del (MYLK) XP_024309304.1:n.5501-11_5501-10del
XM_024453537.1:c.5501-11_5501-10del (MYLK) XP_024309305.1:n.5501-11_5501-10del
Search 100 bp 5'
Search 100 bp 3'