Canonical Allele Identifier: CA2677219268

Gene: DSP

Linked Data

• gnomAD v4: 6-7584338-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584339del , CM000668.2:g.7584339del	GRCh38
NC_000006.11:g.7584572del , CM000668.1:g.7584572del	GRCh37
NC_000006.10:g.7529571del	NCBI36
NG_008803.1:g.47703del , LRG_423:g.47703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5748del	ENSP00000518230.1:p.Ile1916MetfsTer10
ENST00000379802.8:c.7077del MANE Select	ENSP00000369129.3:p.Ile2359MetfsTer10
ENST00000379802.7:c.7077del	ENSP00000369129.3:p.Ile2359MetfsTer10
ENST00000418664.2:c.5280del	ENSP00000396591.2:p.Ile1760MetfsTer10
NM_001008844.1:c.5280del	NP_001008844.1:p.Ile1760MetfsTer10
NM_004415.2:c.7077del , LRG_423t1:c.7077del	NP_004406.2:p.Ile2359MetfsTer10
XM_011514323.1:c.5748del	XP_011512625.1:p.Ile1916MetfsTer10
NM_001008844.2:c.5280del	NP_001008844.1:p.Ile1760MetfsTer10
NM_001319034.1:c.5748del	NP_001305963.1:p.Ile1916MetfsTer10
NM_004415.3:c.7077del	NP_004406.2:p.Ile2359MetfsTer10
NM_004415.4:c.7077del MANE Select	NP_004406.2:p.Ile2359MetfsTer10
NM_001008844.3:c.5280del	NP_001008844.1:p.Ile1760MetfsTer10
NM_001319034.2:c.5748del	NP_001305963.1:p.Ile1916MetfsTer10