Canonical Allele Identifier: CA645551224
Gene: DSP HGNC NCBI

Linked Data

COSMIC: COSM217392

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7580064_7580068del , CM000668.2:g.7580064_7580068del GRCh38
NC_000006.11:g.7580297_7580301del , CM000668.1:g.7580297_7580301del GRCh37
NC_000006.10:g.7525296_7525300del NCBI36
NG_008803.1:g.43428_43432del , LRG_423:g.43428_43432del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3874_3878del ENSP00000518230.1:p.Glu1292ArgfsTer11
ENST00000379802.8:c.3874_3878del MANE Select ENSP00000369129.3:p.Glu1292ArgfsTer11
ENST00000379802.7:c.3874_3878del ENSP00000369129.3:p.Glu1292ArgfsTer11
ENST00000418664.2:c.3582+292_3582+296del ENSP00000396591.2:n.3582+292_3582+296del
NM_001008844.1:c.3582+292_3582+296del NP_001008844.1:n.3582+292_3582+296del
NM_004415.2:c.3874_3878del , LRG_423t1:c.3874_3878del NP_004406.2:p.Glu1292ArgfsTer11
XM_011514323.1:c.3874_3878del XP_011512625.1:p.Glu1292ArgfsTer11
NM_001008844.2:c.3582+292_3582+296del NP_001008844.1:n.3582+292_3582+296del
NM_001319034.1:c.3874_3878del NP_001305963.1:p.Glu1292ArgfsTer11
NM_004415.3:c.3874_3878del NP_004406.2:p.Glu1292ArgfsTer11
NM_004415.4:c.3874_3878del MANE Select NP_004406.2:p.Glu1292ArgfsTer11
NM_001008844.3:c.3582+292_3582+296del NP_001008844.1:n.3582+292_3582+296del
NM_001319034.2:c.3874_3878del NP_001305963.1:p.Glu1292ArgfsTer11