Canonical Allele Identifier: CA1085719470
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1758414752
gnomAD v3: 6-7553951-TC-T
gnomAD v4: 6-7553951-TC-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7553954del , CM000668.2:g.7553954del GRCh38
NC_000006.11:g.7554187del , CM000668.1:g.7554187del GRCh37
NC_000006.10:g.7499186del NCBI36
NG_008803.1:g.17318del , LRG_423:g.17318del

Transcript Alleles

HGVS Amino-acid change
ENST00000683682.2:c.171-1764del ENSP00000508162.2:n.171-1764del
ENST00000710359.1:c.171-1764del ENSP00000518230.1:n.171-1764del
ENST00000683563.1:n.63-1764del
ENST00000683682.1:c.66-1764del ENSP00000508162.1:n.66-1764del
ENST00000379802.8:c.171-1764del MANE Select ENSP00000369129.3:n.171-1764del
ENST00000379802.7:c.171-1764del ENSP00000369129.3:n.171-1764del
ENST00000418664.2:c.171-1764del ENSP00000396591.2:n.171-1764del
NM_001008844.1:c.171-1764del NP_001008844.1:n.171-1764del
NM_004415.2:c.171-1764del , LRG_423t1:c.171-1764del NP_004406.2:n.171-1764del
XM_011514323.1:c.171-1764del XP_011512625.1:n.171-1764del
NM_001008844.2:c.171-1764del NP_001008844.1:n.171-1764del
NM_001319034.1:c.171-1764del NP_001305963.1:n.171-1764del
NM_004415.3:c.171-1764del NP_004406.2:n.171-1764del
NM_004415.4:c.171-1764del MANE Select NP_004406.2:n.171-1764del
NM_001008844.3:c.171-1764del NP_001008844.1:n.171-1764del
NM_001319034.2:c.171-1764del NP_001305963.1:n.171-1764del