Canonical Allele Identifier: CA5283253

Gene: ASS1

Linked Data

• dbSNP Id: rs760128990
• ExAC: 9:133339453 AC / A
• gnomAD v2: 9-133339453-AC-A
• gnomAD v3: 9-130464066-AC-A
• gnomAD v4: 9-130464066-AC-A
• MyVariant Identifiers: chr9:g.133339454del (hg19) ; chr9:g.130464068del (hg38) ; chr9:g.130464067del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130464071del , CM000671.2:g.130464071del	GRCh38
NC_000009.11:g.133339458del , CM000671.1:g.133339458del	GRCh37
NC_000009.10:g.132329279del	NCBI36
NG_011542.1:g.24365del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.364-40del MANE Select	ENSP00000253004.6:n.364-40del
ENST00000352480.9:c.364-40del	ENSP00000253004.6:n.364-40del
ENST00000372393.7:c.364-40del	ENSP00000361469.2:n.364-40del
ENST00000372394.5:c.364-40del	ENSP00000361471.1:n.364-40del
ENST00000422569.5:c.364-40del	ENSP00000394212.1:n.364-40del
ENST00000443588.1:c.364-2654del	ENSP00000397785.1:n.364-2654del
ENST00000467695.5:n.73-40del
NM_000050.4:c.364-40del	NP_000041.2:n.364-40del
NM_054012.3:c.364-40del	NP_446464.1:n.364-40del
XM_005272200.2:c.364-40del	XP_005272257.1:n.364-40del
XM_011518705.1:c.478-40del	XP_011517007.1:n.478-40del
XM_005272200.3:c.364-40del	XP_005272257.1:n.364-40del
XM_011518705.2:c.478-40del	XP_011517007.1:n.478-40del
XM_017014729.1:c.460-40del	XP_016870218.1:n.460-40del
NM_054012.4:c.364-40del MANE Select	NP_446464.1:n.364-40del