Canonical Allele Identifier: CA2675353417
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028548-G-GCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028549_135028550dup , CM000667.2:g.135028549_135028550dup GRCh38
NC_000005.9:g.134364239_134364240dup , CM000667.1:g.134364239_134364240dup GRCh37
NC_000005.8:g.134392138_134392139dup NCBI36
NG_012114.1:g.10725_10726dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*229_*230dup MANE Select ENSP00000265340.6:n.*229_*230dup
ENST00000265340.11:c.*229_*230dup ENSP00000265340.6:n.*229_*230dup
NM_002653.4:c.*229_*230dup NP_002644.4:n.*229_*230dup
NM_002653.5:c.*229_*230dup MANE Select NP_002644.4:n.*229_*230dup
Search 100 bp 5'
Search 100 bp 3'