Canonical Allele Identifier: CA828074116
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1268321517
gnomAD v3: 6-7565349-TC-T
gnomAD v4: 6-7565349-TC-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565351del , CM000668.2:g.7565351del GRCh38
NC_000006.11:g.7565584del , CM000668.1:g.7565584del GRCh37
NC_000006.10:g.7510583del NCBI36
NG_008803.1:g.28715del , LRG_423:g.28715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.778-8del ENSP00000518230.1:n.778-8del
ENST00000682228.1:n.94del
ENST00000379802.8:c.778-8del MANE Select ENSP00000369129.3:n.778-8del
ENST00000379802.7:c.778-8del ENSP00000369129.3:n.778-8del
ENST00000418664.2:c.778-8del ENSP00000396591.2:n.778-8del
ENST00000506617.1:n.296-8del
NM_001008844.1:c.778-8del NP_001008844.1:n.778-8del
NM_004415.2:c.778-8del , LRG_423t1:c.778-8del NP_004406.2:n.778-8del
XM_011514323.1:c.778-8del XP_011512625.1:n.778-8del
NM_001008844.2:c.778-8del NP_001008844.1:n.778-8del
NM_001319034.1:c.778-8del NP_001305963.1:n.778-8del
NM_004415.3:c.778-8del NP_004406.2:n.778-8del
NM_004415.4:c.778-8del MANE Select NP_004406.2:n.778-8del
NM_001008844.3:c.778-8del NP_001008844.1:n.778-8del
NM_001319034.2:c.778-8del NP_001305963.1:n.778-8del