Canonical Allele Identifier: CA2675354040

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031403-TGCCGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031406_135031411del , CM000667.2:g.135031406_135031411del	GRCh38
NC_000005.9:g.134367096_134367101del , CM000667.1:g.134367096_134367101del	GRCh37
NC_000005.8:g.134394995_134395000del	NCBI36
NG_012114.1:g.7866_7871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.269_274del MANE Select	ENSP00000265340.6:p.Arg90_Arg91del
ENST00000265340.11:c.269_274del	ENSP00000265340.6:p.Arg90_Arg91del
ENST00000502676.1:c.269_274del	ENSP00000423624.1:p.Arg90_Arg91del
ENST00000503586.1:c.391_396del
ENST00000504936.1:n.602_607del
ENST00000506438.5:c.269_274del	ENSP00000427542.1:p.Arg90_Arg91del
ENST00000507253.5:c.269_274del	ENSP00000422908.1:p.Arg90_Arg91del
NM_002653.4:c.269_274del	NP_002644.4:p.Arg90_Arg91del
NM_002653.5:c.269_274del MANE Select	NP_002644.4:p.Arg90_Arg91del