Canonical Allele Identifier: CA1132139960

Gene: DMD

Linked Data

• gnomAD v3: X-32454664-TCA-T
• gnomAD v4: X-32454664-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454665_32454666del , CM000685.2:g.32454665_32454666del	GRCh38
NC_000023.10:g.32472782_32472783del , CM000685.1:g.32472782_32472783del	GRCh37
NC_000023.9:g.32382703_32382704del	NCBI36
NG_012232.1:g.889944_889945del , LRG_199:g.889944_889945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3806_3807del
ENST00000357033.9:c.3599_3600del MANE Select	ENSP00000354923.3:p.Met1200LysfsTer4
ENST00000357033.8:c.3599_3600del	ENSP00000354923.3:p.Met1200LysfsTer4
ENST00000378677.6:c.3587_3588del	ENSP00000367948.2:p.Met1196LysfsTer4
ENST00000420596.5:c.94-89467_94-89466del	ENSP00000399897.1:n.94-89467_94-89466del
ENST00000448370.5:c.94-89956_94-89955del	ENSP00000388559.1:n.94-89956_94-89955del
ENST00000488902.5:n.336-237603_336-237602del
ENST00000619831.4:c.3587_3588del	ENSP00000479270.1:p.Met1196LysfsTer4
ENST00000620040.4:c.3599_3600del	ENSP00000478150.1:p.Met1200LysfsTer4
NM_000109.3:c.3575_3576del	NP_000100.2:p.Met1192LysfsTer4
NM_004006.2:c.3599_3600del , LRG_199t1:c.3599_3600del	NP_003997.1:p.Met1200LysfsTer4
NM_004009.3:c.3587_3588del	NP_004000.1:p.Met1196LysfsTer4
NM_004010.3:c.3230_3231del	NP_004001.1:p.Met1077LysfsTer4
XM_006724468.2:c.3599_3600del	XP_006724531.1:p.Met1200LysfsTer4
XM_006724469.2:c.3575_3576del	XP_006724532.1:p.Met1192LysfsTer4
XM_006724470.2:c.3599_3600del	XP_006724533.1:p.Met1200LysfsTer4
XM_006724471.2:c.3599_3600del	XP_006724534.1:p.Met1200LysfsTer4
XM_006724472.2:c.3470_3471del	XP_006724535.1:p.Met1157LysfsTer4
XM_006724473.2:c.3599_3600del	XP_006724536.1:p.Met1200LysfsTer4
XM_006724474.2:c.3599_3600del	XP_006724537.1:p.Met1200LysfsTer4
XM_006724475.2:c.3599_3600del	XP_006724538.1:p.Met1200LysfsTer4
XM_011545467.1:c.3599_3600del	XP_011543769.1:p.Met1200LysfsTer4
XM_011545468.1:c.3599_3600del	XP_011543770.1:p.Met1200LysfsTer4
XM_011545469.1:c.3599_3600del	XP_011543771.1:p.Met1200LysfsTer4
XM_006724469.3:c.3575_3576del	XP_006724532.1:p.Met1192LysfsTer4
XM_006724470.3:c.3599_3600del	XP_006724533.1:p.Met1200LysfsTer4
XM_006724474.3:c.3599_3600del	XP_006724537.1:p.Met1200LysfsTer4
XM_011545468.2:c.3599_3600del	XP_011543770.1:p.Met1200LysfsTer4
XM_017029328.1:c.3599_3600del	XP_016884817.1:p.Met1200LysfsTer4
XM_017029329.1:c.3599_3600del	XP_016884818.1:p.Met1200LysfsTer4
XM_017029330.2:c.3599_3600del	XP_016884819.1:p.Met1200LysfsTer4
NM_000109.4:c.3575_3576del	NP_000100.3:p.Met1192LysfsTer4
NM_004006.3:c.3599_3600del MANE Select	NP_003997.2:p.Met1200LysfsTer4