Canonical Allele Identifier: CA2677226030

Gene: DSP

Linked Data

• gnomAD v4: 6-7579604-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579605dup , CM000668.2:g.7579605dup	GRCh38
NC_000006.11:g.7579838dup , CM000668.1:g.7579838dup	GRCh37
NC_000006.10:g.7524837dup	NCBI36
NG_008803.1:g.42969dup , LRG_423:g.42969dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3415dup	ENSP00000518230.1:p.Tyr1139LeufsTer2
ENST00000379802.8:c.3415dup MANE Select	ENSP00000369129.3:p.Tyr1139LeufsTer2
ENST00000379802.7:c.3415dup	ENSP00000369129.3:p.Tyr1139LeufsTer2
ENST00000418664.2:c.3415dup	ENSP00000396591.2:p.Tyr1139LeufsTer2
NM_001008844.1:c.3415dup	NP_001008844.1:p.Tyr1139LeufsTer2
NM_004415.2:c.3415dup , LRG_423t1:c.3415dup	NP_004406.2:p.Tyr1139LeufsTer2
XM_011514323.1:c.3415dup	XP_011512625.1:p.Tyr1139LeufsTer2
NM_001008844.2:c.3415dup	NP_001008844.1:p.Tyr1139LeufsTer2
NM_001319034.1:c.3415dup	NP_001305963.1:p.Tyr1139LeufsTer2
NM_004415.3:c.3415dup	NP_004406.2:p.Tyr1139LeufsTer2
NM_004415.4:c.3415dup MANE Select	NP_004406.2:p.Tyr1139LeufsTer2
NM_001008844.3:c.3415dup	NP_001008844.1:p.Tyr1139LeufsTer2
NM_001319034.2:c.3415dup	NP_001305963.1:p.Tyr1139LeufsTer2