Canonical Allele Identifier: CA2580100609

Gene: DMD

Linked Data

• ClinVar Variation Id: 2159710
• ClinVar RCV Id: RCV003072963 ; RCV003491233

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774111_31774112delinsAT , CM000685.2:g.31774111_31774112delinsAT	GRCh38
NC_000023.10:g.31792228_31792229delinsAT , CM000685.1:g.31792228_31792229delinsAT	GRCh37
NC_000023.9:g.31702149_31702150delinsAT	NCBI36
NG_012232.1:g.1570498_1570499delinsAT , LRG_199:g.1570498_1570499delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2236_2237delinsAT	ENSP00000350765.3:p.Ser746Ile
ENST00000682238.1:c.10_11delinsAT	ENSP00000508124.1:p.Ser4Ile
ENST00000683117.1:n.1051_1052delinsAT
ENST00000683450.1:n.973_974delinsAT
ENST00000683851.1:n.1051_1052delinsAT
ENST00000683957.1:n.882_883delinsAT
ENST00000684130.1:c.10_11delinsAT	ENSP00000508037.1:p.Ser4Ile
ENST00000357033.9:c.7390_7391delinsAT MANE Select	ENSP00000354923.3:p.Ser2464Ile
ENST00000619831.5:c.3358_3359delinsAT	ENSP00000479270.2:p.Ser1120Ile
ENST00000620040.5:c.10_11delinsAT	ENSP00000478150.2:p.Ser4Ile
ENST00000680961.1:c.10_11delinsAT	ENSP00000506386.1:p.Ser4Ile
ENST00000681646.1:n.1051_1052delinsAT
ENST00000681839.1:c.379_380delinsAT	ENSP00000505228.1:p.Ser127Ile
ENST00000357033.8:c.7390_7391delinsAT	ENSP00000354923.3:p.Ser2464Ile
ENST00000358062.6:c.478_479delinsAT	ENSP00000350765.2:p.Ser160Ile
ENST00000359836.5:c.10_11delinsAT	ENSP00000352894.1:p.Ser4Ile
ENST00000378677.6:c.7378_7379delinsAT	ENSP00000367948.2:p.Ser2460Ile
ENST00000378707.7:c.10_11delinsAT	ENSP00000367979.3:p.Ser4Ile
ENST00000471779.1:c.147_148delinsAT	ENSP00000417075.1:n.147_148delinsAT
ENST00000474231.5:c.10_11delinsAT	ENSP00000417123.1:p.Ser4Ile
ENST00000541735.5:c.10_11delinsAT	ENSP00000444119.1:p.Ser4Ile
ENST00000619831.4:c.7375_7376delinsAT	ENSP00000479270.1:p.Ser2459Ile
ENST00000620040.4:c.7387_7388delinsAT	ENSP00000478150.1:p.Ser2463Ile
NM_000109.3:c.7366_7367delinsAT	NP_000100.2:p.Ser2456Ile
NM_004006.2:c.7390_7391delinsAT , LRG_199t1:c.7390_7391delinsAT	NP_003997.1:p.Ser2464Ile
NM_004009.3:c.7378_7379delinsAT	NP_004000.1:p.Ser2460Ile
NM_004010.3:c.7021_7022delinsAT	NP_004001.1:p.Ser2341Ile
NM_004011.3:c.3367_3368delinsAT	NP_004002.2:p.Ser1123Ile
NM_004012.3:c.3358_3359delinsAT	NP_004003.1:p.Ser1120Ile
NM_004013.2:c.10_11delinsAT	NP_004004.1:p.Ser4Ile
NM_004020.3:c.10_11delinsAT	NP_004011.2:p.Ser4Ile
NM_004021.2:c.10_11delinsAT	NP_004012.1:p.Ser4Ile
NM_004022.2:c.10_11delinsAT	NP_004013.1:p.Ser4Ile
NM_004023.2:c.10_11delinsAT	NP_004014.1:p.Ser4Ile
XM_006724468.2:c.7390_7391delinsAT	XP_006724531.1:p.Ser2464Ile
XM_006724469.2:c.7366_7367delinsAT	XP_006724532.1:p.Ser2456Ile
XM_006724470.2:c.7390_7391delinsAT	XP_006724533.1:p.Ser2464Ile
XM_006724471.2:c.7390_7391delinsAT	XP_006724534.1:p.Ser2464Ile
XM_006724472.2:c.7261_7262delinsAT	XP_006724535.1:p.Ser2421Ile
XM_006724473.2:c.7252_7253delinsAT	XP_006724536.1:p.Ser2418Ile
XM_006724474.2:c.7390_7391delinsAT	XP_006724537.1:p.Ser2464Ile
XM_006724475.2:c.7390_7391delinsAT	XP_006724538.1:p.Ser2464Ile
XM_011545467.1:c.7267_7268delinsAT	XP_011543769.1:p.Ser2423Ile
XM_011545468.1:c.7390_7391delinsAT	XP_011543770.1:p.Ser2464Ile
XM_006724469.3:c.7366_7367delinsAT	XP_006724532.1:p.Ser2456Ile
XM_006724470.3:c.7390_7391delinsAT	XP_006724533.1:p.Ser2464Ile
XM_006724474.3:c.7390_7391delinsAT	XP_006724537.1:p.Ser2464Ile
XM_011545468.2:c.7390_7391delinsAT	XP_011543770.1:p.Ser2464Ile
XM_017029328.1:c.7390_7391delinsAT	XP_016884817.1:p.Ser2464Ile
XM_017029331.1:c.1564_1565delinsAT	XP_016884820.1:p.Ser522Ile
NM_000109.4:c.7366_7367delinsAT	NP_000100.3:p.Ser2456Ile
NM_004006.3:c.7390_7391delinsAT MANE Select	NP_003997.2:p.Ser2464Ile
NM_004011.4:c.3367_3368delinsAT	NP_004002.3:p.Ser1123Ile
NM_004012.4:c.3358_3359delinsAT	NP_004003.2:p.Ser1120Ile
NM_004021.3:c.10_11delinsAT	NP_004012.2:p.Ser4Ile
NM_004023.3:c.10_11delinsAT	NP_004014.2:p.Ser4Ile
NM_004013.3:c.10_11delinsAT	NP_004004.2:p.Ser4Ile
NM_004020.4:c.10_11delinsAT	NP_004011.3:p.Ser4Ile
NM_004022.3:c.10_11delinsAT	NP_004013.2:p.Ser4Ile