Canonical Allele Identifier: CA913187624

Gene: DSP

Linked Data

• ClinVar Variation Id: 924293
• ClinVar RCV Id: RCV001185575 ; RCV001320492
• dbSNP Id: rs1759352206

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579598_7579599delinsAG , CM000668.2:g.7579598_7579599delinsAG	GRCh38
NC_000006.11:g.7579831_7579832delinsAG , CM000668.1:g.7579831_7579832delinsAG	GRCh37
NC_000006.10:g.7524830_7524831delinsAG	NCBI36
NG_008803.1:g.42962_42963delinsAG , LRG_423:g.42962_42963delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3408_3409delinsAG	ENSP00000518230.1:p.Asn1137Asp
ENST00000379802.8:c.3408_3409delinsAG MANE Select	ENSP00000369129.3:p.Asn1137Asp
ENST00000379802.7:c.3408_3409delinsAG	ENSP00000369129.3:p.Asn1137Asp
ENST00000418664.2:c.3408_3409delinsAG	ENSP00000396591.2:p.Asn1137Asp
NM_001008844.1:c.3408_3409delinsAG	NP_001008844.1:p.Asn1137Asp
NM_004415.2:c.3408_3409delinsAG , LRG_423t1:c.3408_3409delinsAG	NP_004406.2:p.Asn1137Asp
XM_011514323.1:c.3408_3409delinsAG	XP_011512625.1:p.Asn1137Asp
NM_001008844.2:c.3408_3409delinsAG	NP_001008844.1:p.Asn1137Asp
NM_001319034.1:c.3408_3409delinsAG	NP_001305963.1:p.Asn1137Asp
NM_004415.3:c.3408_3409delinsAG	NP_004406.2:p.Asn1137Asp
NM_004415.4:c.3408_3409delinsAG MANE Select	NP_004406.2:p.Asn1137Asp
NM_001008844.3:c.3408_3409delinsAG	NP_001008844.1:p.Asn1137Asp
NM_001319034.2:c.3408_3409delinsAG	NP_001305963.1:p.Asn1137Asp