Canonical Allele Identifier: CA2677226185

Gene: DSP

Linked Data

• gnomAD v4: 6-7579714-G-GGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579715_7579717dup , CM000668.2:g.7579715_7579717dup	GRCh38
NC_000006.11:g.7579948_7579950dup , CM000668.1:g.7579948_7579950dup	GRCh37
NC_000006.10:g.7524947_7524949dup	NCBI36
NG_008803.1:g.43079_43081dup , LRG_423:g.43079_43081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3525_3527dup	ENSP00000518230.1:p.Val1176_Leu1177insVal
ENST00000379802.8:c.3525_3527dup MANE Select	ENSP00000369129.3:p.Val1176_Leu1177insVal
ENST00000379802.7:c.3525_3527dup	ENSP00000369129.3:p.Val1176_Leu1177insVal
ENST00000418664.2:c.3525_3527dup	ENSP00000396591.2:p.Val1176_Leu1177insVal
NM_001008844.1:c.3525_3527dup	NP_001008844.1:p.Val1176_Leu1177insVal
NM_004415.2:c.3525_3527dup , LRG_423t1:c.3525_3527dup	NP_004406.2:p.Val1176_Leu1177insVal
XM_011514323.1:c.3525_3527dup	XP_011512625.1:p.Val1176_Leu1177insVal
NM_001008844.2:c.3525_3527dup	NP_001008844.1:p.Val1176_Leu1177insVal
NM_001319034.1:c.3525_3527dup	NP_001305963.1:p.Val1176_Leu1177insVal
NM_004415.3:c.3525_3527dup	NP_004406.2:p.Val1176_Leu1177insVal
NM_004415.4:c.3525_3527dup MANE Select	NP_004406.2:p.Val1176_Leu1177insVal
NM_001008844.3:c.3525_3527dup	NP_001008844.1:p.Val1176_Leu1177insVal
NM_001319034.2:c.3525_3527dup	NP_001305963.1:p.Val1176_Leu1177insVal