Canonical Allele Identifier: CA2677220959

Gene: DSP

Linked Data

• gnomAD v4: 6-7585149-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585153dup , CM000668.2:g.7585153dup	GRCh38
NC_000006.11:g.7585386dup , CM000668.1:g.7585386dup	GRCh37
NC_000006.10:g.7530385dup	NCBI36
NG_008803.1:g.48517dup , LRG_423:g.48517dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6562dup	ENSP00000518230.1:p.Ile2188AsnfsTer13
ENST00000379802.8:c.7891dup MANE Select	ENSP00000369129.3:p.Ile2631AsnfsTer13
ENST00000379802.7:c.7891dup	ENSP00000369129.3:p.Ile2631AsnfsTer13
ENST00000418664.2:c.6094dup	ENSP00000396591.2:p.Ile2032AsnfsTer13
NM_001008844.1:c.6094dup	NP_001008844.1:p.Ile2032AsnfsTer13
NM_004415.2:c.7891dup , LRG_423t1:c.7891dup	NP_004406.2:p.Ile2631AsnfsTer13
XM_011514323.1:c.6562dup	XP_011512625.1:p.Ile2188AsnfsTer13
NM_001008844.2:c.6094dup	NP_001008844.1:p.Ile2032AsnfsTer13
NM_001319034.1:c.6562dup	NP_001305963.1:p.Ile2188AsnfsTer13
NM_004415.3:c.7891dup	NP_004406.2:p.Ile2631AsnfsTer13
NM_004415.4:c.7891dup MANE Select	NP_004406.2:p.Ile2631AsnfsTer13
NM_001008844.3:c.6094dup	NP_001008844.1:p.Ile2032AsnfsTer13
NM_001319034.2:c.6562dup	NP_001305963.1:p.Ile2188AsnfsTer13