Canonical Allele Identifier: CA2565375005
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583476_7583477del , CM000668.2:g.7583476_7583477del GRCh38
NC_000006.11:g.7583709_7583710del , CM000668.1:g.7583709_7583710del GRCh37
NC_000006.10:g.7528708_7528709del NCBI36
NG_008803.1:g.46840_46841del , LRG_423:g.46840_46841del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4885_4886del ENSP00000518230.1:p.Ala1629HisfsTer7
ENST00000379802.8:c.6214_6215del MANE Select ENSP00000369129.3:p.Ala2072HisfsTer7
ENST00000379802.7:c.6214_6215del ENSP00000369129.3:p.Ala2072HisfsTer7
ENST00000418664.2:c.4417_4418del ENSP00000396591.2:p.Ala1473HisfsTer7
NM_001008844.1:c.4417_4418del NP_001008844.1:p.Ala1473HisfsTer7
NM_004415.2:c.6214_6215del , LRG_423t1:c.6214_6215del NP_004406.2:p.Ala2072HisfsTer7
XM_011514323.1:c.4885_4886del XP_011512625.1:p.Ala1629HisfsTer7
NM_001008844.2:c.4417_4418del NP_001008844.1:p.Ala1473HisfsTer7
NM_001319034.1:c.4885_4886del NP_001305963.1:p.Ala1629HisfsTer7
NM_004415.3:c.6214_6215del NP_004406.2:p.Ala2072HisfsTer7
NM_004415.4:c.6214_6215del MANE Select NP_004406.2:p.Ala2072HisfsTer7
NM_001008844.3:c.4417_4418del NP_001008844.1:p.Ala1473HisfsTer7
NM_001319034.2:c.4885_4886del NP_001305963.1:p.Ala1629HisfsTer7