Canonical Allele Identifier: CA1081832849
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1752455658
gnomAD v3: 5-135031762-AG-A
gnomAD v4: 5-135031762-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031765del , CM000667.2:g.135031765del GRCh38
NC_000005.9:g.134367455del , CM000667.1:g.134367455del GRCh37
NC_000005.8:g.134395354del NCBI36
NG_012114.1:g.7512del

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.170-255del MANE Select ENSP00000265340.6:n.170-255del
ENST00000265340.11:c.170-255del ENSP00000265340.6:n.170-255del
ENST00000502676.1:c.170-255del ENSP00000423624.1:n.170-255del
ENST00000503586.1:c.292-255del
ENST00000504936.1:n.248del
ENST00000506438.5:c.170-255del ENSP00000427542.1:n.170-255del
ENST00000507253.5:c.170-255del ENSP00000422908.1:n.170-255del
NM_002653.4:c.170-255del NP_002644.4:n.170-255del
NM_002653.5:c.170-255del MANE Select NP_002644.4:n.170-255del
Search 100 bp 5'
Search 100 bp 3'