Canonical Allele Identifier: CA2533098979
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7568834_7568836del , CM000668.2:g.7568834_7568836del GRCh38
NC_000006.11:g.7569067_7569069del , CM000668.1:g.7569067_7569069del GRCh37
NC_000006.10:g.7514066_7514068del NCBI36
NG_008803.1:g.32198_32200del , LRG_423:g.32198_32200del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.1419+245_1419+247del ENSP00000518230.1:n.1419+245_1419+247del
ENST00000379802.8:c.1419+245_1419+247del MANE Select ENSP00000369129.3:n.1419+245_1419+247del
ENST00000379802.7:c.1419+245_1419+247del ENSP00000369129.3:n.1419+245_1419+247del
ENST00000418664.2:c.1419+245_1419+247del ENSP00000396591.2:n.1419+245_1419+247del
NM_001008844.1:c.1419+245_1419+247del NP_001008844.1:n.1419+245_1419+247del
NM_004415.2:c.1419+245_1419+247del , LRG_423t1:c.1419+245_1419+247del NP_004406.2:n.1419+245_1419+247del
XM_011514323.1:c.1419+245_1419+247del XP_011512625.1:n.1419+245_1419+247del
NM_001008844.2:c.1419+245_1419+247del NP_001008844.1:n.1419+245_1419+247del
NM_001319034.1:c.1419+245_1419+247del NP_001305963.1:n.1419+245_1419+247del
NM_004415.3:c.1419+245_1419+247del NP_004406.2:n.1419+245_1419+247del
NM_004415.4:c.1419+245_1419+247del MANE Select NP_004406.2:n.1419+245_1419+247del
NM_001008844.3:c.1419+245_1419+247del NP_001008844.1:n.1419+245_1419+247del
NM_001319034.2:c.1419+245_1419+247del NP_001305963.1:n.1419+245_1419+247del