Canonical Allele Identifier: CA1081831276
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v3: 5-135028549-C-CTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4: 5-135028549-C-CTTTTTTTTTTTTTTTTTTTTTTTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028550_135028573dup , CM000667.2:g.135028550_135028573dup GRCh38
NC_000005.9:g.134364240_134364263dup , CM000667.1:g.134364240_134364263dup GRCh37
NC_000005.8:g.134392139_134392162dup NCBI36
NG_012114.1:g.10702_10725dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*206_*229dup MANE Select ENSP00000265340.6:n.*206_*229dup
ENST00000265340.11:c.*206_*229dup ENSP00000265340.6:n.*206_*229dup
NM_002653.4:c.*206_*229dup NP_002644.4:n.*206_*229dup
NM_002653.5:c.*206_*229dup MANE Select NP_002644.4:n.*206_*229dup
Search 100 bp 5'
Search 100 bp 3'