Canonical Allele Identifier: CA2675354213

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031708-GAGAAGAGCCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031713_135031723del , CM000667.2:g.135031713_135031723del	GRCh38
NC_000005.9:g.134367403_134367413del , CM000667.1:g.134367403_134367413del	GRCh37
NC_000005.8:g.134395302_134395312del	NCBI36
NG_012114.1:g.7556_7566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.170-211_170-201del MANE Select	ENSP00000265340.6:n.170-211_170-201del
ENST00000265340.11:c.170-211_170-201del	ENSP00000265340.6:n.170-211_170-201del
ENST00000502676.1:c.170-211_170-201del	ENSP00000423624.1:n.170-211_170-201del
ENST00000503586.1:c.292-211_292-201del
ENST00000504936.1:n.292_302del
ENST00000506438.5:c.170-211_170-201del	ENSP00000427542.1:n.170-211_170-201del
ENST00000507253.5:c.170-211_170-201del	ENSP00000422908.1:n.170-211_170-201del
NM_002653.4:c.170-211_170-201del	NP_002644.4:n.170-211_170-201del
NM_002653.5:c.170-211_170-201del MANE Select	NP_002644.4:n.170-211_170-201del