Canonical Allele Identifier: CA1584336063

Gene: PITX1

Linked Data

• dbSNP Id: rs1752386827
• gnomAD v4: 5-135028467-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028467_135028468insCC , CM000667.2:g.135028467_135028468insCC	GRCh38
NC_000005.9:g.134364157_134364158insCC , CM000667.1:g.134364157_134364158insCC	GRCh37
NC_000005.8:g.134392056_134392057insCC	NCBI36
NG_012114.1:g.10807_10808insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*311_*312insGG MANE Select	ENSP00000265340.6:n.*311_*312insGG
ENST00000265340.11:c.*311_*312insGG	ENSP00000265340.6:n.*311_*312insGG
NM_002653.4:c.*311_*312insGG	NP_002644.4:n.*311_*312insGG
NM_002653.5:c.*311_*312insGG MANE Select	NP_002644.4:n.*311_*312insGG