Canonical Allele Identifier: CA1881272105

Gene: ASS1

Linked Data

• dbSNP Id: rs1820817070
• gnomAD v4: 9-130480513-ACCCTGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480518_130480524del , CM000671.2:g.130480518_130480524del	GRCh38
NC_000009.11:g.133355905_133355911del , CM000671.1:g.133355905_133355911del	GRCh37
NC_000009.10:g.132345726_132345732del	NCBI36
NG_011542.1:g.40812_40818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.838+69_838+75del MANE Select	ENSP00000253004.6:n.838+69_838+75del
ENST00000352480.9:c.838+69_838+75del	ENSP00000253004.6:n.838+69_838+75del
ENST00000372386.6:n.109+69_109+75del
ENST00000372393.7:c.838+69_838+75del	ENSP00000361469.2:n.838+69_838+75del
ENST00000372394.5:c.838+69_838+75del	ENSP00000361471.1:n.838+69_838+75del
ENST00000470849.4:n.563+69_563+75del
ENST00000492400.5:n.347+69_347+75del
ENST00000493984.6:n.615+69_615+75del
NM_000050.4:c.838+69_838+75del	NP_000041.2:n.838+69_838+75del
NM_054012.3:c.838+69_838+75del	NP_446464.1:n.838+69_838+75del
XM_005272200.2:c.838+69_838+75del	XP_005272257.1:n.838+69_838+75del
XM_011518705.1:c.952+69_952+75del	XP_011517007.1:n.952+69_952+75del
XM_005272200.3:c.838+69_838+75del	XP_005272257.1:n.838+69_838+75del
XM_011518705.2:c.952+69_952+75del	XP_011517007.1:n.952+69_952+75del
XM_017014729.1:c.934+69_934+75del	XP_016870218.1:n.934+69_934+75del
NM_054012.4:c.838+69_838+75del MANE Select	NP_446464.1:n.838+69_838+75del