Canonical Allele Identifier: CA10646109

Gene: DMD

Linked Data

• ClinVar Variation Id: 368206
• ClinVar RCV Id: RCV000388754
• dbSNP Id: rs751300992
• gnomAD v2: X-31138274-TTGAA-T
• gnomAD v3: X-31120157-TTGAA-T
• gnomAD v4: X-31120157-TTGAA-T
• MyVariant Identifiers: chrX:g.31138275_31138278del (hg19) ; chrX:g.31120158_31120161del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31120165_31120168del , CM000685.2:g.31120165_31120168del	GRCh38
NC_000023.10:g.31138282_31138285del , CM000685.1:g.31138282_31138285del	GRCh37
NC_000023.9:g.31048203_31048206del	NCBI36
NG_012232.1:g.2224449_2224452del , LRG_199:g.2224449_2224452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.7591_7594del	ENSP00000350765.3:n.7591_7594del
ENST00000680162.2:c.*1672_*1675del	ENSP00000506634.2:n.*1672_*1675del
ENST00000680768.2:c.*1758_*1761del	ENSP00000506359.2:n.*1758_*1761del
ENST00000681989.1:n.3582_3585del
ENST00000682207.1:n.2904_2907del
ENST00000682238.1:c.*1672_*1675del	ENSP00000508124.1:n.*1672_*1675del
ENST00000682322.1:c.*1758_*1761del	ENSP00000507690.1:n.*1758_*1761del
ENST00000682600.1:c.*1758_*1761del	ENSP00000507640.1:n.*1758_*1761del
ENST00000682746.1:n.2174_2177del
ENST00000682769.1:n.3376_3379del
ENST00000683675.1:n.3915_3918del
ENST00000683709.1:n.4217_4220del
ENST00000684072.1:n.3045_3048del
ENST00000684130.1:c.*1758_*1761del	ENSP00000508037.1:n.*1758_*1761del
ENST00000684350.1:n.4599_4602del
ENST00000343523.7:c.*1758_*1761del	ENSP00000340057.4:n.*1758_*1761del
ENST00000357033.9:c.*1758_*1761del MANE Select	ENSP00000354923.3:n.*1758_*1761del
ENST00000619831.5:c.*1758_*1761del	ENSP00000479270.2:n.*1758_*1761del
ENST00000620040.5:c.*1672_*1675del	ENSP00000478150.2:n.*1672_*1675del
ENST00000679437.1:c.*1672_*1675del	ENSP00000506629.1:n.*1672_*1675del
ENST00000679482.1:n.2358_2361del
ENST00000679641.1:c.*2456_*2459del	ENSP00000506135.1:n.*2456_*2459del
ENST00000679669.1:n.1926_1929del
ENST00000679850.1:n.7827_7830del
ENST00000680162.1:c.*1672_*1675del	ENSP00000506634.1:n.*1672_*1675del
ENST00000680355.1:c.*1758_*1761del	ENSP00000506257.1:n.*1758_*1761del
ENST00000680557.1:c.*1815_*1818del	ENSP00000505164.1:n.*1815_*1818del
ENST00000680701.1:n.2591_2594del
ENST00000680961.1:c.*2747_*2750del	ENSP00000506386.1:n.*2747_*2750del
ENST00000681026.1:c.*1672_*1675del	ENSP00000506689.1:n.*1672_*1675del
ENST00000343523.6:c.*1758_*1761del	ENSP00000340057.3:n.*1758_*1761del
ENST00000357033.8:c.*1758_*1761del	ENSP00000354923.3:n.*1758_*1761del
ENST00000358062.6:c.5833_5836del	ENSP00000350765.2:n.5833_5836del
ENST00000359836.5:c.*1672_*1675del	ENSP00000352894.1:n.*1672_*1675del
ENST00000378677.6:c.*1758_*1761del	ENSP00000367948.2:n.*1758_*1761del
ENST00000378707.7:c.*1758_*1761del	ENSP00000367979.3:n.*1758_*1761del
ENST00000378723.7:c.*1672_*1675del	ENSP00000367997.3:n.*1672_*1675del
ENST00000481143.2:n.115-21978_115-21975del
ENST00000541735.5:c.*1758_*1761del	ENSP00000444119.1:n.*1758_*1761del
ENST00000619831.4:c.12801_12804del	ENSP00000479270.1:n.12801_12804del
ENST00000620040.4:c.12813_12816del	ENSP00000478150.1:n.12813_12816del
NM_000109.3:c.*1758_*1761del	NP_000100.2:n.*1758_*1761del
NM_004006.2:c.*1758_*1761del , LRG_199t1:c.*1758_*1761del	NP_003997.1:n.*1758_*1761del
NM_004009.3:c.*1758_*1761del	NP_004000.1:n.*1758_*1761del
NM_004010.3:c.*1758_*1761del	NP_004001.1:n.*1758_*1761del
NM_004011.3:c.*1758_*1761del	NP_004002.2:n.*1758_*1761del
NM_004012.3:c.*1758_*1761del	NP_004003.1:n.*1758_*1761del
NM_004013.2:c.*1758_*1761del	NP_004004.1:n.*1758_*1761del
NM_004014.2:c.*1758_*1761del	NP_004005.1:n.*1758_*1761del
NM_004015.2:c.*1758_*1761del	NP_004006.1:n.*1758_*1761del
NM_004016.2:c.*1672_*1675del	NP_004007.1:n.*1672_*1675del
NM_004017.2:c.*1758_*1761del	NP_004008.1:n.*1758_*1761del
NM_004018.2:c.*1672_*1675del	NP_004009.1:n.*1672_*1675del
NM_004020.3:c.*1758_*1761del	NP_004011.2:n.*1758_*1761del
NM_004021.2:c.*1672_*1675del	NP_004012.1:n.*1672_*1675del
NM_004022.2:c.*1672_*1675del	NP_004013.1:n.*1672_*1675del
NM_004023.2:c.*1672_*1675del	NP_004014.1:n.*1672_*1675del
XM_006724468.2:c.*1672_*1675del	XP_006724531.1:n.*1672_*1675del
XM_006724469.2:c.*1672_*1675del	XP_006724532.1:n.*1672_*1675del
XM_006724470.2:c.*1672_*1675del	XP_006724533.1:n.*1672_*1675del
XM_006724471.2:c.*1672_*1675del	XP_006724534.1:n.*1672_*1675del
XM_006724472.2:c.*1672_*1675del	XP_006724535.1:n.*1672_*1675del
XM_006724473.2:c.*1672_*1675del	XP_006724536.1:n.*1672_*1675del
XM_006724474.2:c.*1672_*1675del	XP_006724537.1:n.*1672_*1675del
XM_006724475.2:c.*1758_*1761del	XP_006724538.1:n.*1758_*1761del
XM_011545467.1:c.*1672_*1675del	XP_011543769.1:n.*1672_*1675del
XM_006724469.3:c.*1672_*1675del	XP_006724532.1:n.*1672_*1675del
XM_006724470.3:c.*1672_*1675del	XP_006724533.1:n.*1672_*1675del
XM_006724474.3:c.*1672_*1675del	XP_006724537.1:n.*1672_*1675del
XM_017029328.1:c.*1758_*1761del	XP_016884817.1:n.*1758_*1761del
XM_017029331.1:c.*1672_*1675del	XP_016884820.1:n.*1672_*1675del
NM_000109.4:c.*1758_*1761del	NP_000100.3:n.*1758_*1761del
NM_004006.3:c.*1758_*1761del MANE Select	NP_003997.2:n.*1758_*1761del
NM_004011.4:c.*1758_*1761del	NP_004002.3:n.*1758_*1761del
NM_004012.4:c.*1758_*1761del	NP_004003.2:n.*1758_*1761del
NM_004015.3:c.*1758_*1761del	NP_004006.1:n.*1758_*1761del
NM_004016.3:c.*1672_*1675del	NP_004007.1:n.*1672_*1675del
NM_004017.3:c.*1758_*1761del	NP_004008.1:n.*1758_*1761del
NM_004018.3:c.*1672_*1675del	NP_004009.1:n.*1672_*1675del
NM_004021.3:c.*1672_*1675del	NP_004012.2:n.*1672_*1675del
NM_004023.3:c.*1672_*1675del	NP_004014.2:n.*1672_*1675del
NM_004013.3:c.*1758_*1761del	NP_004004.2:n.*1758_*1761del
NM_004014.3:c.*1758_*1761del	NP_004005.2:n.*1758_*1761del
NM_004020.4:c.*1758_*1761del	NP_004011.3:n.*1758_*1761del
NM_004022.3:c.*1672_*1675del	NP_004013.2:n.*1672_*1675del