Canonical Allele Identifier: CA2692134563

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489255-T-TGTCATTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489255_130489256insGTCATTTGC , CM000671.2:g.130489255_130489256insGTCATTTGC	GRCh38
NC_000009.11:g.133364642_133364643insGTCATTTGC , CM000671.1:g.133364642_133364643insGTCATTTGC	GRCh37
NC_000009.10:g.132354463_132354464insGTCATTTGC	NCBI36
NG_011542.1:g.49549_49550insGTCATTTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.839-78_839-77insGTCATTTGC MANE Select	ENSP00000253004.6:n.839-78_839-77insGTCATTTGC
ENST00000352480.9:c.839-78_839-77insGTCATTTGC	ENSP00000253004.6:n.839-78_839-77insGTCATTTGC
ENST00000372386.6:n.110-78_110-77insGTCATTTGC
ENST00000372393.7:c.839-78_839-77insGTCATTTGC	ENSP00000361469.2:n.839-78_839-77insGTCATTTGC
ENST00000372394.5:c.839-78_839-77insGTCATTTGC	ENSP00000361471.1:n.839-78_839-77insGTCATTTGC
ENST00000470849.4:n.564-78_564-77insGTCATTTGC
ENST00000492400.5:n.348-78_348-77insGTCATTTGC
ENST00000493984.6:n.616-78_616-77insGTCATTTGC
NM_000050.4:c.839-78_839-77insGTCATTTGC	NP_000041.2:n.839-78_839-77insGTCATTTGC
NM_054012.3:c.839-78_839-77insGTCATTTGC	NP_446464.1:n.839-78_839-77insGTCATTTGC
XM_005272200.2:c.839-78_839-77insGTCATTTGC	XP_005272257.1:n.839-78_839-77insGTCATTTGC
XM_011518705.1:c.953-78_953-77insGTCATTTGC	XP_011517007.1:n.953-78_953-77insGTCATTTGC
XM_005272200.3:c.839-78_839-77insGTCATTTGC	XP_005272257.1:n.839-78_839-77insGTCATTTGC
XM_011518705.2:c.953-78_953-77insGTCATTTGC	XP_011517007.1:n.953-78_953-77insGTCATTTGC
XM_017014729.1:c.935-78_935-77insGTCATTTGC	XP_016870218.1:n.935-78_935-77insGTCATTTGC
NM_054012.4:c.839-78_839-77insGTCATTTGC MANE Select	NP_446464.1:n.839-78_839-77insGTCATTTGC