Canonical Allele Identifier: CA2697546637

Gene: MAK TMEM14B

Linked Data

• ClinVar Variation Id: 2762380
• ClinVar RCV Id: RCV003570046

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10813622_10813627del , CM000668.2:g.10813622_10813627del	GRCh38
NC_000006.11:g.10813855_10813860del , CM000668.1:g.10813855_10813860del	GRCh37
NC_000006.10:g.10921841_10921846del	NCBI36
NG_030040.1:g.29931_29936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354489.7:c.358+19_358+24del (MAK) MANE Select	ENSP00000346484.3:n.358+19_358+24del
ENST00000536370.6:c.358+19_358+24del (MAK)	ENSP00000442221.2:n.358+19_358+24del
ENST00000538030.3:c.358+19_358+24del (MAK)	ENSP00000442250.1:n.358+19_358+24del
ENST00000675026.1:c.358+19_358+24del (MAK)	ENSP00000502542.1:n.358+19_358+24del
ENST00000676116.1:c.256+19_256+24del (MAK)	ENSP00000502045.1:n.256+19_256+24del
ENST00000313243.6:c.358+19_358+24del (MAK)	ENSP00000313021.2:n.358+19_358+24del
ENST00000354489.6:c.358+19_358+24del (MAK)	ENSP00000346484.3:n.358+19_358+24del
ENST00000460341.5:c.*121-24402_*121-24397del (TMEM14B)	ENSP00000417095.1:n.*121-24402_*121-24397del
ENST00000463100.5:c.*121-15385_*121-15380del (TMEM14B)	ENSP00000419806.1:n.*121-15385_*121-15380del
ENST00000463448.5:c.*121-37938_*121-37933del (TMEM14B)	ENSP00000419208.1:n.*121-37938_*121-37933del
ENST00000467229.1:c.285-15385_285-15380del (TMEM14B)
ENST00000473166.5:c.*121-12942_*121-12937del (TMEM14B)	ENSP00000417416.1:n.*121-12942_*121-12937del
ENST00000474039.5:c.358+19_358+24del (MAK)	ENSP00000476067.1:n.358+19_358+24del
ENST00000480294.1:c.100+63924_100+63929del	ENSP00000417929.1:n.100+63924_100+63929del
ENST00000489137.1:n.129-12942_129-12937del (TMEM14B)
ENST00000536370.5:c.358+19_358+24del (MAK)	ENSP00000442221.2:n.358+19_358+24del
ENST00000538030.2:c.358+19_358+24del (MAK)	ENSP00000442250.1:n.358+19_358+24del
NM_001242385.1:c.358+19_358+24del (MAK)	NP_001229314.1:n.358+19_358+24del
NM_001242957.1:c.358+19_358+24del (MAK)	NP_001229886.1:n.358+19_358+24del
NM_005906.4:c.358+19_358+24del (MAK)	NP_005897.1:n.358+19_358+24del
XM_011514619.1:c.358+19_358+24del (MAK)	XP_011512921.1:n.358+19_358+24del
XM_011514620.1:c.358+19_358+24del (MAK)	XP_011512922.1:n.358+19_358+24del
XM_011514621.1:c.301+19_301+24del (MAK)	XP_011512923.1:n.301+19_301+24del
XM_011514622.1:c.358+19_358+24del (MAK)	XP_011512924.1:n.358+19_358+24del
XM_011514623.1:c.-77+19_-77+24del (MAK)	XP_011512925.1:n.-77+19_-77+24del
XR_926215.1:n.690+19_690+24del (MAK)
XR_926216.1:n.726+19_726+24del (MAK)
XR_926217.1:n.690+19_690+24del (MAK)
XR_926219.1:n.690+19_690+24del (MAK)
XR_926220.1:n.690+19_690+24del (MAK)
XR_926221.1:n.690+19_690+24del (MAK)
NM_001242957.2:c.358+19_358+24del (MAK)	NP_001229886.1:n.358+19_358+24del
NM_005906.5:c.358+19_358+24del (MAK)	NP_005897.1:n.358+19_358+24del
NR_134935.1:n.640+19_640+24del (MAK)
NR_134936.1:n.729+19_729+24del (MAK)
XM_011514619.2:c.358+19_358+24del (MAK)	XP_011512921.1:n.358+19_358+24del
XM_011514620.2:c.358+19_358+24del (MAK)	XP_011512922.1:n.358+19_358+24del
XM_011514621.2:c.301+19_301+24del (MAK)	XP_011512923.1:n.301+19_301+24del
XM_011514622.3:c.358+19_358+24del (MAK)	XP_011512924.1:n.358+19_358+24del
XM_017010863.2:c.358+19_358+24del (MAK)	XP_016866352.1:n.358+19_358+24del
XM_017010864.2:c.358+19_358+24del (MAK)	XP_016866353.1:n.358+19_358+24del
XM_017010865.1:c.301+19_301+24del (MAK)	XP_016866354.1:n.301+19_301+24del
XM_017010866.2:c.358+19_358+24del (MAK)	XP_016866355.1:n.358+19_358+24del
XM_024446443.1:c.-77+19_-77+24del (MAK)	XP_024302211.1:n.-77+19_-77+24del
XM_024446444.1:c.358+19_358+24del (MAK)	XP_024302212.1:n.358+19_358+24del
XR_001743419.2:n.628+19_628+24del (MAK)
XR_002956283.1:n.628+19_628+24del (MAK)
XR_926215.3:n.628+19_628+24del (MAK)
XR_926220.3:n.628+19_628+24del (MAK)
NM_001242957.3:c.358+19_358+24del (MAK) MANE Select	NP_001229886.1:n.358+19_358+24del
NM_001377262.1:c.256+19_256+24del (MAK)	NP_001364191.1:n.256+19_256+24del
NM_005906.6:c.358+19_358+24del (MAK)	NP_005897.1:n.358+19_358+24del
NR_134935.2:n.624+19_624+24del (MAK)
NR_134936.2:n.785+19_785+24del (MAK)
NM_001242385.2:c.358+19_358+24del (MAK)	NP_001229314.1:n.358+19_358+24del