Canonical Allele Identifier: CA1608613665

Gene: DSP

Linked Data

• ClinVar Variation Id: 3074328
• ClinVar RCV Id: RCV004012870
• dbSNP Id: rs1759343081
• gnomAD v4: 6-7579349-TAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579352_7579354del , CM000668.2:g.7579352_7579354del	GRCh38
NC_000006.11:g.7579585_7579587del , CM000668.1:g.7579585_7579587del	GRCh37
NC_000006.10:g.7524584_7524586del	NCBI36
NG_008803.1:g.42716_42718del , LRG_423:g.42716_42718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3162_3164del	ENSP00000518230.1:p.Lys1054del
ENST00000379802.8:c.3162_3164del MANE Select	ENSP00000369129.3:p.Lys1054del
ENST00000379802.7:c.3162_3164del	ENSP00000369129.3:p.Lys1054del
ENST00000418664.2:c.3162_3164del	ENSP00000396591.2:p.Lys1054del
NM_001008844.1:c.3162_3164del	NP_001008844.1:p.Lys1054del
NM_004415.2:c.3162_3164del , LRG_423t1:c.3162_3164del	NP_004406.2:p.Lys1054del
XM_011514323.1:c.3162_3164del	XP_011512625.1:p.Lys1054del
NM_001008844.2:c.3162_3164del	NP_001008844.1:p.Lys1054del
NM_001319034.1:c.3162_3164del	NP_001305963.1:p.Lys1054del
NM_004415.3:c.3162_3164del	NP_004406.2:p.Lys1054del
NM_004415.4:c.3162_3164del MANE Select	NP_004406.2:p.Lys1054del
NM_001008844.3:c.3162_3164del	NP_001008844.1:p.Lys1054del
NM_001319034.2:c.3162_3164del	NP_001305963.1:p.Lys1054del