Canonical Allele Identifier: CA1608615930
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7580127_7580128delinsCT , CM000668.2:g.7580127_7580128delinsCT GRCh38
NC_000006.11:g.7580360_7580361delinsCT , CM000668.1:g.7580360_7580361delinsCT GRCh37
NC_000006.10:g.7525359_7525360delinsCT NCBI36
NG_008803.1:g.43491_43492delinsCT , LRG_423:g.43491_43492delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3937_3938delinsCT ENSP00000518230.1:p.Leu1313=
ENST00000379802.8:c.3937_3938delinsCT MANE Select ENSP00000369129.3:p.Leu1313=
ENST00000379802.7:c.3937_3938delinsCT ENSP00000369129.3:p.Leu1313=
ENST00000418664.2:c.3582+355_3582+356delinsCT ENSP00000396591.2:n.3582+355_3582+356delinsCT
NM_001008844.1:c.3582+355_3582+356delinsCT NP_001008844.1:n.3582+355_3582+356delinsCT
NM_004415.2:c.3937_3938delinsCT , LRG_423t1:c.3937_3938delinsCT NP_004406.2:p.Leu1313=
XM_011514323.1:c.3937_3938delinsCT XP_011512625.1:p.Leu1313=
NM_001008844.2:c.3582+355_3582+356delinsCT NP_001008844.1:n.3582+355_3582+356delinsCT
NM_001319034.1:c.3937_3938delinsCT NP_001305963.1:p.Leu1313=
NM_004415.3:c.3937_3938delinsCT NP_004406.2:p.Leu1313=
NM_004415.4:c.3937_3938delinsCT MANE Select NP_004406.2:p.Leu1313=
NM_001008844.3:c.3582+355_3582+356delinsCT NP_001008844.1:n.3582+355_3582+356delinsCT
NM_001319034.2:c.3937_3938delinsCT NP_001305963.1:p.Leu1313=