Canonical Allele Identifier: CA2695232450

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774100_31774101delinsAT , CM000685.2:g.31774100_31774101delinsAT	GRCh38
NC_000023.10:g.31792217_31792218delinsAT , CM000685.1:g.31792217_31792218delinsAT	GRCh37
NC_000023.9:g.31702138_31702139delinsAT	NCBI36
NG_012232.1:g.1570509_1570510delinsAT , LRG_199:g.1570509_1570510delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2247_2248delinsAT	ENSP00000350765.3:p.Leu750Ter
ENST00000682238.1:c.21_22delinsAT	ENSP00000508124.1:p.Leu8Ter
ENST00000683117.1:n.1062_1063delinsAT
ENST00000683450.1:n.984_985delinsAT
ENST00000683851.1:n.1062_1063delinsAT
ENST00000683957.1:n.893_894delinsAT
ENST00000684130.1:c.21_22delinsAT	ENSP00000508037.1:p.Leu8Ter
ENST00000357033.9:c.7401_7402delinsAT MANE Select	ENSP00000354923.3:p.Leu2468Ter
ENST00000619831.5:c.3369_3370delinsAT	ENSP00000479270.2:p.Leu1124Ter
ENST00000620040.5:c.21_22delinsAT	ENSP00000478150.2:p.Leu8Ter
ENST00000680961.1:c.21_22delinsAT	ENSP00000506386.1:p.Leu8Ter
ENST00000681646.1:n.1062_1063delinsAT
ENST00000681839.1:c.390_391delinsAT	ENSP00000505228.1:p.Leu131Ter
ENST00000357033.8:c.7401_7402delinsAT	ENSP00000354923.3:p.Leu2468Ter
ENST00000358062.6:c.489_490delinsAT	ENSP00000350765.2:p.Leu164Ter
ENST00000359836.5:c.21_22delinsAT	ENSP00000352894.1:p.Leu8Ter
ENST00000378677.6:c.7389_7390delinsAT	ENSP00000367948.2:p.Leu2464Ter
ENST00000378707.7:c.21_22delinsAT	ENSP00000367979.3:p.Leu8Ter
ENST00000471779.1:c.158_159delinsAT	ENSP00000417075.1:n.158_159delinsAT
ENST00000474231.5:c.21_22delinsAT	ENSP00000417123.1:p.Leu8Ter
ENST00000541735.5:c.21_22delinsAT	ENSP00000444119.1:p.Leu8Ter
ENST00000619831.4:c.7386_7387delinsAT	ENSP00000479270.1:p.Leu2463Ter
ENST00000620040.4:c.7398_7399delinsAT	ENSP00000478150.1:p.Leu2467Ter
NM_000109.3:c.7377_7378delinsAT	NP_000100.2:p.Leu2460Ter
NM_004006.2:c.7401_7402delinsAT , LRG_199t1:c.7401_7402delinsAT	NP_003997.1:p.Leu2468Ter
NM_004009.3:c.7389_7390delinsAT	NP_004000.1:p.Leu2464Ter
NM_004010.3:c.7032_7033delinsAT	NP_004001.1:p.Leu2345Ter
NM_004011.3:c.3378_3379delinsAT	NP_004002.2:p.Leu1127Ter
NM_004012.3:c.3369_3370delinsAT	NP_004003.1:p.Leu1124Ter
NM_004013.2:c.21_22delinsAT	NP_004004.1:p.Leu8Ter
NM_004020.3:c.21_22delinsAT	NP_004011.2:p.Leu8Ter
NM_004021.2:c.21_22delinsAT	NP_004012.1:p.Leu8Ter
NM_004022.2:c.21_22delinsAT	NP_004013.1:p.Leu8Ter
NM_004023.2:c.21_22delinsAT	NP_004014.1:p.Leu8Ter
XM_006724468.2:c.7401_7402delinsAT	XP_006724531.1:p.Leu2468Ter
XM_006724469.2:c.7377_7378delinsAT	XP_006724532.1:p.Leu2460Ter
XM_006724470.2:c.7401_7402delinsAT	XP_006724533.1:p.Leu2468Ter
XM_006724471.2:c.7401_7402delinsAT	XP_006724534.1:p.Leu2468Ter
XM_006724472.2:c.7272_7273delinsAT	XP_006724535.1:p.Leu2425Ter
XM_006724473.2:c.7263_7264delinsAT	XP_006724536.1:p.Leu2422Ter
XM_006724474.2:c.7401_7402delinsAT	XP_006724537.1:p.Leu2468Ter
XM_006724475.2:c.7401_7402delinsAT	XP_006724538.1:p.Leu2468Ter
XM_011545467.1:c.7278_7279delinsAT	XP_011543769.1:p.Leu2427Ter
XM_011545468.1:c.7401_7402delinsAT	XP_011543770.1:p.Leu2468Ter
XM_006724469.3:c.7377_7378delinsAT	XP_006724532.1:p.Leu2460Ter
XM_006724470.3:c.7401_7402delinsAT	XP_006724533.1:p.Leu2468Ter
XM_006724474.3:c.7401_7402delinsAT	XP_006724537.1:p.Leu2468Ter
XM_011545468.2:c.7401_7402delinsAT	XP_011543770.1:p.Leu2468Ter
XM_017029328.1:c.7401_7402delinsAT	XP_016884817.1:p.Leu2468Ter
XM_017029331.1:c.1575_1576delinsAT	XP_016884820.1:p.Leu526Ter
NM_000109.4:c.7377_7378delinsAT	NP_000100.3:p.Leu2460Ter
NM_004006.3:c.7401_7402delinsAT MANE Select	NP_003997.2:p.Leu2468Ter
NM_004011.4:c.3378_3379delinsAT	NP_004002.3:p.Leu1127Ter
NM_004012.4:c.3369_3370delinsAT	NP_004003.2:p.Leu1124Ter
NM_004021.3:c.21_22delinsAT	NP_004012.2:p.Leu8Ter
NM_004023.3:c.21_22delinsAT	NP_004014.2:p.Leu8Ter
NM_004013.3:c.21_22delinsAT	NP_004004.2:p.Leu8Ter
NM_004020.4:c.21_22delinsAT	NP_004011.3:p.Leu8Ter
NM_004022.3:c.21_22delinsAT	NP_004013.2:p.Leu8Ter