Canonical Allele Identifier: CA2677225879

Gene: DSP

Linked Data

• gnomAD v4: 6-7579517-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579519del , CM000668.2:g.7579519del	GRCh38
NC_000006.11:g.7579752del , CM000668.1:g.7579752del	GRCh37
NC_000006.10:g.7524751del	NCBI36
NG_008803.1:g.42883del , LRG_423:g.42883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3329del	ENSP00000518230.1:p.Lys1110ArgfsTer5
ENST00000379802.8:c.3329del MANE Select	ENSP00000369129.3:p.Lys1110ArgfsTer5
ENST00000379802.7:c.3329del	ENSP00000369129.3:p.Lys1110ArgfsTer5
ENST00000418664.2:c.3329del	ENSP00000396591.2:p.Lys1110ArgfsTer5
NM_001008844.1:c.3329del	NP_001008844.1:p.Lys1110ArgfsTer5
NM_004415.2:c.3329del , LRG_423t1:c.3329del	NP_004406.2:p.Lys1110ArgfsTer5
XM_011514323.1:c.3329del	XP_011512625.1:p.Lys1110ArgfsTer5
NM_001008844.2:c.3329del	NP_001008844.1:p.Lys1110ArgfsTer5
NM_001319034.1:c.3329del	NP_001305963.1:p.Lys1110ArgfsTer5
NM_004415.3:c.3329del	NP_004406.2:p.Lys1110ArgfsTer5
NM_004415.4:c.3329del MANE Select	NP_004406.2:p.Lys1110ArgfsTer5
NM_001008844.3:c.3329del	NP_001008844.1:p.Lys1110ArgfsTer5
NM_001319034.2:c.3329del	NP_001305963.1:p.Lys1110ArgfsTer5