Canonical Allele Identifier: CA2573052738

Gene: DSP

Linked Data

• ClinVar Variation Id: 1339288
• ClinVar RCV Id: RCV001823812
• dbSNP Id: rs2113691650

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579578_7579579insCTTCC , CM000668.2:g.7579578_7579579insCTTCC	GRCh38
NC_000006.11:g.7579811_7579812insCTTCC , CM000668.1:g.7579811_7579812insCTTCC	GRCh37
NC_000006.10:g.7524810_7524811insCTTCC	NCBI36
NG_008803.1:g.42942_42943insCTTCC , LRG_423:g.42942_42943insCTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3388_3389insCTTCC	ENSP00000518230.1:p.Asp1130AlafsTer31
ENST00000379802.8:c.3388_3389insCTTCC MANE Select	ENSP00000369129.3:p.Asp1130AlafsTer31
ENST00000379802.7:c.3388_3389insCTTCC	ENSP00000369129.3:p.Asp1130AlafsTer31
ENST00000418664.2:c.3388_3389insCTTCC	ENSP00000396591.2:p.Asp1130AlafsTer31
NM_001008844.1:c.3388_3389insCTTCC	NP_001008844.1:p.Asp1130AlafsTer31
NM_004415.2:c.3388_3389insCTTCC , LRG_423t1:c.3388_3389insCTTCC	NP_004406.2:p.Asp1130AlafsTer31
XM_011514323.1:c.3388_3389insCTTCC	XP_011512625.1:p.Asp1130AlafsTer31
NM_001008844.2:c.3388_3389insCTTCC	NP_001008844.1:p.Asp1130AlafsTer31
NM_001319034.1:c.3388_3389insCTTCC	NP_001305963.1:p.Asp1130AlafsTer31
NM_004415.3:c.3388_3389insCTTCC	NP_004406.2:p.Asp1130AlafsTer31
NM_004415.4:c.3388_3389insCTTCC MANE Select	NP_004406.2:p.Asp1130AlafsTer31
NM_001008844.3:c.3388_3389insCTTCC	NP_001008844.1:p.Asp1130AlafsTer31
NM_001319034.2:c.3388_3389insCTTCC	NP_001305963.1:p.Asp1130AlafsTer31