Canonical Allele Identifier: CA2568863715

Gene: PITX1

Linked Data

• gnomAD v4: 5-135028581-T-TGTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028582_135028583insTTGG , CM000667.2:g.135028582_135028583insTTGG	GRCh38
NC_000005.9:g.134364272_134364273insTTGG , CM000667.1:g.134364272_134364273insTTGG	GRCh37
NC_000005.8:g.134392171_134392172insTTGG	NCBI36
NG_012114.1:g.10693_10694insCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*197_*198insCAAC MANE Select	ENSP00000265340.6:n.*197_*198insCAAC
ENST00000265340.11:c.*197_*198insCAAC	ENSP00000265340.6:n.*197_*198insCAAC
ENST00000506438.5:c.*197_*198insCAAC	ENSP00000427542.1:n.*197_*198insCAAC
NM_002653.4:c.*197_*198insCAAC	NP_002644.4:n.*197_*198insCAAC
NM_002653.5:c.*197_*198insCAAC MANE Select	NP_002644.4:n.*197_*198insCAAC