Canonical Allele Identifier: CA2566272401
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567463_7567467del , CM000668.2:g.7567463_7567467del GRCh38
NC_000006.11:g.7567696_7567700del , CM000668.1:g.7567696_7567700del GRCh37
NC_000006.10:g.7512695_7512699del NCBI36
NG_008803.1:g.30827_30831del , LRG_423:g.30827_30831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.1140+14_1140+18del ENSP00000518230.1:n.1140+14_1140+18del
ENST00000682228.1:n.478_482del
ENST00000379802.8:c.1140+14_1140+18del MANE Select ENSP00000369129.3:n.1140+14_1140+18del
ENST00000379802.7:c.1140+14_1140+18del ENSP00000369129.3:n.1140+14_1140+18del
ENST00000418664.2:c.1140+14_1140+18del ENSP00000396591.2:n.1140+14_1140+18del
NM_001008844.1:c.1140+14_1140+18del NP_001008844.1:n.1140+14_1140+18del
NM_004415.2:c.1140+14_1140+18del , LRG_423t1:c.1140+14_1140+18del NP_004406.2:n.1140+14_1140+18del
XM_011514323.1:c.1140+14_1140+18del XP_011512625.1:n.1140+14_1140+18del
NM_001008844.2:c.1140+14_1140+18del NP_001008844.1:n.1140+14_1140+18del
NM_001319034.1:c.1140+14_1140+18del NP_001305963.1:n.1140+14_1140+18del
NM_004415.3:c.1140+14_1140+18del NP_004406.2:n.1140+14_1140+18del
NM_004415.4:c.1140+14_1140+18del MANE Select NP_004406.2:n.1140+14_1140+18del
NM_001008844.3:c.1140+14_1140+18del NP_001008844.1:n.1140+14_1140+18del
NM_001319034.2:c.1140+14_1140+18del NP_001305963.1:n.1140+14_1140+18del