Canonical Allele Identifier: CA2710323282

Gene: PITX1

Linked Data

• dbSNP Id: rs2149561073

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031710_135031711del , CM000667.2:g.135031710_135031711del	GRCh38
NC_000005.9:g.134367400_134367401del , CM000667.1:g.134367400_134367401del	GRCh37
NC_000005.8:g.134395299_134395300del	NCBI36
NG_012114.1:g.7566_7567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.170-201_170-200del MANE Select	ENSP00000265340.6:n.170-201_170-200del
ENST00000265340.11:c.170-201_170-200del	ENSP00000265340.6:n.170-201_170-200del
ENST00000502676.1:c.170-201_170-200del	ENSP00000423624.1:n.170-201_170-200del
ENST00000503586.1:c.292-201_292-200del
ENST00000504936.1:n.302_303del
ENST00000506438.5:c.170-201_170-200del	ENSP00000427542.1:n.170-201_170-200del
ENST00000507253.5:c.170-201_170-200del	ENSP00000422908.1:n.170-201_170-200del
NM_002653.4:c.170-201_170-200del	NP_002644.4:n.170-201_170-200del
NM_002653.5:c.170-201_170-200del MANE Select	NP_002644.4:n.170-201_170-200del