Canonical Allele Identifier: CA2675354420

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031929-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031931_135031932del , CM000667.2:g.135031931_135031932del	GRCh38
NC_000005.9:g.134367621_134367622del , CM000667.1:g.134367621_134367622del	GRCh37
NC_000005.8:g.134395520_134395521del	NCBI36
NG_012114.1:g.7344_7345del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.170-423_170-422del MANE Select	ENSP00000265340.6:n.170-423_170-422del
ENST00000265340.11:c.170-423_170-422del	ENSP00000265340.6:n.170-423_170-422del
ENST00000502676.1:c.170-423_170-422del	ENSP00000423624.1:n.170-423_170-422del
ENST00000503586.1:c.292-423_292-422del
ENST00000504936.1:n.80_81del
ENST00000506438.5:c.170-423_170-422del	ENSP00000427542.1:n.170-423_170-422del
ENST00000507253.5:c.170-423_170-422del	ENSP00000422908.1:n.170-423_170-422del
NM_002653.4:c.170-423_170-422del	NP_002644.4:n.170-423_170-422del
NM_002653.5:c.170-423_170-422del MANE Select	NP_002644.4:n.170-423_170-422del