Canonical Allele Identifier: CA590945364

Gene: ABL1

Linked Data

• dbSNP Id: rs1489604275
• gnomAD v2: 9-133738282-G-GC
• MyVariant Identifiers: chr9:g.133738282_133738283insC (hg19) ; chr9:g.130862895_130862896insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130862895_130862896insC , CM000671.2:g.130862895_130862896insC	GRCh38
NC_000009.11:g.133738282_133738283insC , CM000671.1:g.133738282_133738283insC	GRCh37
NC_000009.10:g.132728103_132728104insC	NCBI36
NG_012034.1:g.154015_154016insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372348.9:c.739_740insC	ENSP00000361423.2:p.Val247AlafsTer?
ENST00000318560.6:c.682_683insC MANE Select	ENSP00000323315.5:p.Val228AlafsTer?
ENST00000372348.7:c.739_740insC	ENSP00000361423.2:p.Val247AlafsTer?
ENST00000318560.5:c.682_683insC	ENSP00000323315.5:p.Val228AlafsTer?
ENST00000372348.6:c.739_740insC	ENSP00000361423.2:p.Val247AlafsTer?
NM_005157.5:c.682_683insC	NP_005148.2:p.Val228AlafsTer?
NM_007313.2:c.739_740insC	NP_009297.2:p.Val247AlafsTer?
NM_005157.6:c.682_683insC MANE Select	NP_005148.2:p.Val228AlafsTer?
NM_007313.3:c.739_740insC	NP_009297.2:p.Val247AlafsTer?