Canonical Allele Identifier: CA128008908

Gene: PITX1

Linked Data

• dbSNP Id: rs386405033
• MyVariant Identifiers: chr5:g.134364166_134364167insAC (hg19) ; chr5:g.135028476_135028477insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028476_135028477insAC , CM000667.2:g.135028476_135028477insAC	GRCh38
NC_000005.9:g.134364166_134364167insAC , CM000667.1:g.134364166_134364167insAC	GRCh37
NC_000005.8:g.134392065_134392066insAC	NCBI36
NG_012114.1:g.10798_10799insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*302_*303insGT MANE Select	ENSP00000265340.6:n.*302_*303insGT
ENST00000265340.11:c.*302_*303insGT	ENSP00000265340.6:n.*302_*303insGT
NM_002653.4:c.*302_*303insGT	NP_002644.4:n.*302_*303insGT
NM_002653.5:c.*302_*303insGT MANE Select	NP_002644.4:n.*302_*303insGT