Canonical Allele Identifier: CA006811
Community Standard Title: NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)
Gene: DSP HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583557_7583558delinsAT , CM000668.2:g.7583557_7583558delinsAT GRCh38
NC_000006.11:g.7583790_7583791delinsAT , CM000668.1:g.7583790_7583791delinsAT GRCh37
NC_000006.10:g.7528789_7528790delinsAT NCBI36
NG_008803.1:g.46921_46922delinsAT , LRG_423:g.46921_46922delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.6295_6296delinsAT MANE Select NP_004406.2:p.Pro2099Ile
ENST00000379802.8:c.6295_6296delinsAT MANE Select ENSP00000369129.3:p.Pro2099Ile
NM_001008844.1:c.4498_4499delinsAT NP_001008844.1:p.Pro1500Ile
NM_001008844.2:c.4498_4499delinsAT NP_001008844.1:p.Pro1500Ile
NM_001008844.3:c.4498_4499delinsAT NP_001008844.1:p.Pro1500Ile
NM_001319034.1:c.4966_4967delinsAT NP_001305963.1:p.Pro1656Ile
NM_001319034.2:c.4966_4967delinsAT NP_001305963.1:p.Pro1656Ile
NM_004415.2:c.6295_6296delinsAT , LRG_423t1:c.6295_6296delinsAT NP_004406.2:p.Pro2099Ile
NM_004415.3:c.6295_6296delinsAT NP_004406.2:p.Pro2099Ile
ENST00000379802.7:c.6295_6296delinsAT ENSP00000369129.3:p.Pro2099Ile
ENST00000418664.2:c.4498_4499delinsAT ENSP00000396591.2:p.Pro1500Ile
ENST00000710359.1:c.4966_4967delinsAT ENSP00000518230.1:p.Pro1656Ile
XM_011514323.1:c.4966_4967delinsAT XP_011512625.1:p.Pro1656Ile
Search 100 bp 5'
Search 100 bp 3'