Canonical Allele Identifier: CA2675354038

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031355-AACGTGGCCTCTAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031356_135031368del , CM000667.2:g.135031356_135031368del	GRCh38
NC_000005.9:g.134367046_134367058del , CM000667.1:g.134367046_134367058del	GRCh37
NC_000005.8:g.134394945_134394957del	NCBI36
NG_012114.1:g.7907_7919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.310_322del MANE Select	ENSP00000265340.6:p.Leu104SerfsTer9
ENST00000265340.11:c.310_322del	ENSP00000265340.6:p.Leu104SerfsTer9
ENST00000502676.1:c.310_322del	ENSP00000423624.1:p.Leu104SerfsTer?
ENST00000503586.1:c.432_444del
ENST00000504936.1:n.643_655del
ENST00000506438.5:c.310_322del	ENSP00000427542.1:p.Leu104SerfsTer9
ENST00000507253.5:c.310_322del	ENSP00000422908.1:p.Leu104SerfsTer9
NM_002653.4:c.310_322del	NP_002644.4:p.Leu104SerfsTer9
NM_002653.5:c.310_322del MANE Select	NP_002644.4:p.Leu104SerfsTer9