Canonical Allele Identifier: CA200606156
Gene: ASS1 HGNC NCBI

Linked Data

dbSNP Id: rs891895096

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130456015del , CM000671.2:g.130456015del GRCh38
NC_000009.11:g.133331402del , CM000671.1:g.133331402del GRCh37
NC_000009.10:g.132321223del NCBI36
NG_011542.1:g.16309del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.174+1642del MANE Select ENSP00000253004.6:n.174+1642del
ENST00000352480.9:c.174+1642del ENSP00000253004.6:n.174+1642del
ENST00000372393.7:c.174+1642del ENSP00000361469.2:n.174+1642del
ENST00000372394.5:c.174+1642del ENSP00000361471.1:n.174+1642del
ENST00000422569.5:c.174+1642del ENSP00000394212.1:n.174+1642del
ENST00000443588.1:c.174+1642del ENSP00000397785.1:n.174+1642del
NM_000050.4:c.174+1642del NP_000041.2:n.174+1642del
NM_054012.3:c.174+1642del NP_446464.1:n.174+1642del
XM_005272200.2:c.174+1642del XP_005272257.1:n.174+1642del
XM_011518705.1:c.288+1642del XP_011517007.1:n.288+1642del
XM_005272200.3:c.174+1642del XP_005272257.1:n.174+1642del
XM_011518705.2:c.288+1642del XP_011517007.1:n.288+1642del
XM_017014729.1:c.270+1642del XP_016870218.1:n.270+1642del
NM_054012.4:c.174+1642del MANE Select NP_446464.1:n.174+1642del