Canonical Allele Identifier: CA2604555969

Gene: PITX1

Linked Data

• gnomAD v3: 5-135028467-A-AGC
• gnomAD v4: 5-135028467-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028467_135028468insGC , CM000667.2:g.135028467_135028468insGC	GRCh38
NC_000005.9:g.134364157_134364158insGC , CM000667.1:g.134364157_134364158insGC	GRCh37
NC_000005.8:g.134392056_134392057insGC	NCBI36
NG_012114.1:g.10807_10808insGC

Transcript Alleles

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