Canonical Allele Identifier: CA156433
Gene: NKX2-6 HGNC NCBI

Linked Data

ClinVar Variation Id: 133345
ClinVar RCV Id: RCV000119845
dbSNP Id: rs587777422

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23702903_23702904insA , CM000670.2:g.23702903_23702904insA GRCh38
NC_000008.10:g.23560416_23560417insA , CM000670.1:g.23560416_23560417insA GRCh37
NC_000008.9:g.23616361_23616362insA NCBI36
NG_030636.1:g.8695_8696insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000325017.4:c.453_454insT MANE Select ENSP00000320089.3:p.Lys152Ter
ENST00000325017.3:c.453_454insT ENSP00000320089.3:p.Lys152Ter
NM_001136271.2:c.453_454insT NP_001129743.2:p.Lys152Ter
XR_001745842.1:n.1312+34153_1312+34154insA
NM_001136271.3:c.453_454insT MANE Select NP_001129743.2:p.Lys152Ter