Canonical Allele Identifier: CA2692134680

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489280-TCATGCGTTTCTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489281_130489294del , CM000671.2:g.130489281_130489294del	GRCh38
NC_000009.11:g.133364668_133364681del , CM000671.1:g.133364668_133364681del	GRCh37
NC_000009.10:g.132354489_132354502del	NCBI36
NG_011542.1:g.49575_49588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.839-52_839-39del MANE Select	ENSP00000253004.6:n.839-52_839-39del
ENST00000352480.9:c.839-52_839-39del	ENSP00000253004.6:n.839-52_839-39del
ENST00000372386.6:n.110-52_110-39del
ENST00000372393.7:c.839-52_839-39del	ENSP00000361469.2:n.839-52_839-39del
ENST00000372394.5:c.839-52_839-39del	ENSP00000361471.1:n.839-52_839-39del
ENST00000470849.4:n.564-52_564-39del
ENST00000492400.5:n.348-52_348-39del
ENST00000493984.6:n.616-52_616-39del
NM_000050.4:c.839-52_839-39del	NP_000041.2:n.839-52_839-39del
NM_054012.3:c.839-52_839-39del	NP_446464.1:n.839-52_839-39del
XM_005272200.2:c.839-52_839-39del	XP_005272257.1:n.839-52_839-39del
XM_011518705.1:c.953-52_953-39del	XP_011517007.1:n.953-52_953-39del
XM_005272200.3:c.839-52_839-39del	XP_005272257.1:n.839-52_839-39del
XM_011518705.2:c.953-52_953-39del	XP_011517007.1:n.953-52_953-39del
XM_017014729.1:c.935-52_935-39del	XP_016870218.1:n.935-52_935-39del
NM_054012.4:c.839-52_839-39del MANE Select	NP_446464.1:n.839-52_839-39del