Canonical Allele Identifier: CA771211
Community Standard Title: NM_024700.4(SNIP1):c.1139_1142del (p.Asp380GlyfsTer?)
Gene: SNIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37537799_37537802del , CM000663.2:g.37537799_37537802del GRCh38
NC_000001.10:g.38003400_38003403del , CM000663.1:g.38003400_38003403del GRCh37
NC_000001.9:g.37775987_37775990del NCBI36
NG_032170.1:g.21545_21548del
NG_032170.2:g.21545_21548del

Transcript Alleles

HGVS Amino-acid Change
NM_024700.4:c.1139_1142del MANE Select NP_078976.2:p.Asp380GlyfsTer?
ENST00000296215.8:c.1139_1142del MANE Select ENSP00000296215.5:p.Asp380GlyfsTer?
NM_024700.3:c.1139_1142del NP_078976.2:p.Asp380GlyfsTer?
ENST00000296215.6:c.1139_1142del ENSP00000296215.5:p.Asp380GlyfsTer?
ENST00000638725.1:n.1651_1654del
XM_011542160.1:c.896_899del XP_011540462.1:p.Asp299GlyfsTer?
XR_001737980.1:n.565-890_565-887del
XR_947190.1:n.188-890_188-887del
XR_947190.2:n.207-890_207-887del
XR_947191.1:n.188-890_188-887del