Canonical Allele Identifier: CA2675353926

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031150-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031151del , CM000667.2:g.135031151del	GRCh38
NC_000005.9:g.134366841del , CM000667.1:g.134366841del	GRCh37
NC_000005.8:g.134394740del	NCBI36
NG_012114.1:g.8124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.402+125del MANE Select	ENSP00000265340.6:n.402+125del
ENST00000265340.11:c.402+125del	ENSP00000265340.6:n.402+125del
ENST00000503586.1:c.524+125del
ENST00000504936.1:n.735+125del
ENST00000506438.5:c.402+125del	ENSP00000427542.1:n.402+125del
NM_002653.4:c.402+125del	NP_002644.4:n.402+125del
NM_002653.5:c.402+125del MANE Select	NP_002644.4:n.402+125del