Canonical Allele Identifier: CA1608617100
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1758827795

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565381_7565388del , CM000668.2:g.7565381_7565388del GRCh38
NC_000006.11:g.7565614_7565621del , CM000668.1:g.7565614_7565621del GRCh37
NC_000006.10:g.7510613_7510620del NCBI36
NG_008803.1:g.28745_28752del , LRG_423:g.28745_28752del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.800_807del ENSP00000518230.1:p.Asp267AlafsTer19
ENST00000682228.1:n.124_131del
ENST00000379802.8:c.800_807del MANE Select ENSP00000369129.3:p.Asp267AlafsTer19
ENST00000379802.7:c.800_807del ENSP00000369129.3:p.Asp267AlafsTer19
ENST00000418664.2:c.800_807del ENSP00000396591.2:p.Asp267AlafsTer19
ENST00000506617.1:n.318_325del
NM_001008844.1:c.800_807del NP_001008844.1:p.Asp267AlafsTer19
NM_004415.2:c.800_807del , LRG_423t1:c.800_807del NP_004406.2:p.Asp267AlafsTer19
XM_011514323.1:c.800_807del XP_011512625.1:p.Asp267AlafsTer19
NM_001008844.2:c.800_807del NP_001008844.1:p.Asp267AlafsTer19
NM_001319034.1:c.800_807del NP_001305963.1:p.Asp267AlafsTer19
NM_004415.3:c.800_807del NP_004406.2:p.Asp267AlafsTer19
NM_004415.4:c.800_807del MANE Select NP_004406.2:p.Asp267AlafsTer19
NM_001008844.3:c.800_807del NP_001008844.1:p.Asp267AlafsTer19
NM_001319034.2:c.800_807del NP_001305963.1:p.Asp267AlafsTer19