Canonical Allele Identifier: CA2825002095
Community Standard Title: NM_003483.6(HMGA2):c.138_141delinsCT (p.Lys46AsnfsTer16)
Gene: HMGA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65828027_65828030delinsCT , CM000674.2:g.65828027_65828030delinsCT GRCh38
NC_000012.11:g.66221807_66221810delinsCT , CM000674.1:g.66221807_66221810delinsCT GRCh37
NC_000012.10:g.64508074_64508077delinsCT NCBI36
NG_016296.1:g.8568_8571delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_003483.6:c.138_141delinsCT MANE Select NP_003474.1:p.Lys46AsnfsTer16
ENST00000403681.7:c.138_141delinsCT MANE Select ENSP00000384026.2:p.Lys46AsnfsTer16
NM_001300918.1:c.138_141delinsCT NP_001287847.1:p.Lys46AsnfsTer16
NM_001300919.1:c.138_141delinsCT NP_001287848.1:p.Lys46AsnfsTer16
NM_001330190.1:c.138_141delinsCT NP_001317119.1:p.Lys46AsnfsTer16
NM_003483.4:c.138_141delinsCT NP_003474.1:p.Lys46AsnfsTer16
NM_003484.1:c.138_141delinsCT NP_003475.1:p.Lys46AsnfsTer16
ENST00000354636.7:c.138_141delinsCT ENSP00000346658.3:p.Lys46AsnfsTer16
ENST00000393577.7:c.138_141delinsCT ENSP00000377205.3:p.Lys46AsnfsTer16
ENST00000393578.7:c.138_141delinsCT ENSP00000377206.3:p.Lys46AsnfsTer16
ENST00000403681.6:c.138_141delinsCT ENSP00000384026.2:p.Lys46AsnfsTer16
ENST00000425208.6:c.138_141delinsCT ENSP00000407306.2:p.Lys46AsnfsTer16
ENST00000536545.5:c.138_141delinsCT ENSP00000437621.1:p.Lys46AsnfsTer16
ENST00000537275.5:c.138_141delinsCT ENSP00000437747.1:p.Lys46AsnfsTer16
ENST00000537429.5:c.138_141delinsCT ENSP00000443372.1:p.Lys46AsnfsTer16
ENST00000539662.1:c.27_30delinsCT ENSP00000440919.1:p.Lys9AsnfsTer16
ENST00000541363.5:c.138_141delinsCT ENSP00000439317.1:p.Lys46AsnfsTer16
ENST00000545998.1:n.598_601delinsCT