Canonical Allele Identifier: CA2692134212

Gene: ASS1

Linked Data

• gnomAD v4: 9-130480548-CCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480556_130480627del , CM000671.2:g.130480556_130480627del	GRCh38
NC_000009.11:g.133355943_133356014del , CM000671.1:g.133355943_133356014del	GRCh37
NC_000009.10:g.132345764_132345835del	NCBI36
NG_011542.1:g.40850_40921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.838+107_838+178del MANE Select	ENSP00000253004.6:n.838+107_838+178del
ENST00000352480.9:c.838+107_838+178del	ENSP00000253004.6:n.838+107_838+178del
ENST00000372386.6:n.109+107_109+178del
ENST00000372393.7:c.838+107_838+178del	ENSP00000361469.2:n.838+107_838+178del
ENST00000372394.5:c.838+107_838+178del	ENSP00000361471.1:n.838+107_838+178del
ENST00000470849.4:n.563+107_563+178del
ENST00000492400.5:n.347+107_347+178del
ENST00000493984.6:n.615+107_615+178del
NM_000050.4:c.838+107_838+178del	NP_000041.2:n.838+107_838+178del
NM_054012.3:c.838+107_838+178del	NP_446464.1:n.838+107_838+178del
XM_005272200.2:c.838+107_838+178del	XP_005272257.1:n.838+107_838+178del
XM_011518705.1:c.952+107_952+178del	XP_011517007.1:n.952+107_952+178del
XM_005272200.3:c.838+107_838+178del	XP_005272257.1:n.838+107_838+178del
XM_011518705.2:c.952+107_952+178del	XP_011517007.1:n.952+107_952+178del
XM_017014729.1:c.934+107_934+178del	XP_016870218.1:n.934+107_934+178del
NM_054012.4:c.838+107_838+178del MANE Select	NP_446464.1:n.838+107_838+178del