Canonical Allele Identifier: CA2579483591

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489242-ATTATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489245_130489249del , CM000671.2:g.130489245_130489249del	GRCh38
NC_000009.11:g.133364632_133364636del , CM000671.1:g.133364632_133364636del	GRCh37
NC_000009.10:g.132354453_132354457del	NCBI36
NG_011542.1:g.49539_49543del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.839-88_839-84del MANE Select	ENSP00000253004.6:n.839-88_839-84del
ENST00000352480.9:c.839-88_839-84del	ENSP00000253004.6:n.839-88_839-84del
ENST00000372386.6:n.110-88_110-84del
ENST00000372393.7:c.839-88_839-84del	ENSP00000361469.2:n.839-88_839-84del
ENST00000372394.5:c.839-88_839-84del	ENSP00000361471.1:n.839-88_839-84del
ENST00000470849.4:n.564-88_564-84del
ENST00000492400.5:n.348-88_348-84del
ENST00000493984.6:n.616-88_616-84del
NM_000050.4:c.839-88_839-84del	NP_000041.2:n.839-88_839-84del
NM_054012.3:c.839-88_839-84del	NP_446464.1:n.839-88_839-84del
XM_005272200.2:c.839-88_839-84del	XP_005272257.1:n.839-88_839-84del
XM_011518705.1:c.953-88_953-84del	XP_011517007.1:n.953-88_953-84del
XM_005272200.3:c.839-88_839-84del	XP_005272257.1:n.839-88_839-84del
XM_011518705.2:c.953-88_953-84del	XP_011517007.1:n.953-88_953-84del
XM_017014729.1:c.935-88_935-84del	XP_016870218.1:n.935-88_935-84del
NM_054012.4:c.839-88_839-84del MANE Select	NP_446464.1:n.839-88_839-84del