Canonical Allele Identifier: CA2692134528

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489245-ATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489254_130489256del , CM000671.2:g.130489254_130489256del	GRCh38
NC_000009.11:g.133364641_133364643del , CM000671.1:g.133364641_133364643del	GRCh37
NC_000009.10:g.132354462_132354464del	NCBI36
NG_011542.1:g.49548_49550del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.839-79_839-77del MANE Select	ENSP00000253004.6:n.839-79_839-77del
ENST00000352480.9:c.839-79_839-77del	ENSP00000253004.6:n.839-79_839-77del
ENST00000372386.6:n.110-79_110-77del
ENST00000372393.7:c.839-79_839-77del	ENSP00000361469.2:n.839-79_839-77del
ENST00000372394.5:c.839-79_839-77del	ENSP00000361471.1:n.839-79_839-77del
ENST00000470849.4:n.564-79_564-77del
ENST00000492400.5:n.348-79_348-77del
ENST00000493984.6:n.616-79_616-77del
NM_000050.4:c.839-79_839-77del	NP_000041.2:n.839-79_839-77del
NM_054012.3:c.839-79_839-77del	NP_446464.1:n.839-79_839-77del
XM_005272200.2:c.839-79_839-77del	XP_005272257.1:n.839-79_839-77del
XM_011518705.1:c.953-79_953-77del	XP_011517007.1:n.953-79_953-77del
XM_005272200.3:c.839-79_839-77del	XP_005272257.1:n.839-79_839-77del
XM_011518705.2:c.953-79_953-77del	XP_011517007.1:n.953-79_953-77del
XM_017014729.1:c.935-79_935-77del	XP_016870218.1:n.935-79_935-77del
NM_054012.4:c.839-79_839-77del MANE Select	NP_446464.1:n.839-79_839-77del