Canonical Allele Identifier: CA804232365

Gene: PITX1

Linked Data

• dbSNP Id: rs1302482427
• MyVariant Identifiers: chr5:g.134364202_134364213del (hg19) ; chr5:g.135028512_135028523del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028512_135028523del , CM000667.2:g.135028512_135028523del	GRCh38
NC_000005.9:g.134364202_134364213del , CM000667.1:g.134364202_134364213del	GRCh37
NC_000005.8:g.134392101_134392112del	NCBI36
NG_012114.1:g.10752_10763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*256_*267del MANE Select	ENSP00000265340.6:n.*256_*267del
ENST00000265340.11:c.*256_*267del	ENSP00000265340.6:n.*256_*267del
NM_002653.4:c.*256_*267del	NP_002644.4:n.*256_*267del
NM_002653.5:c.*256_*267del MANE Select	NP_002644.4:n.*256_*267del