Canonical Allele Identifier: CA2768505060
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028550_135028551insGTTTT , CM000667.2:g.135028550_135028551insGTTTT GRCh38
NC_000005.9:g.134364240_134364241insGTTTT , CM000667.1:g.134364240_134364241insGTTTT GRCh37
NC_000005.8:g.134392139_134392140insGTTTT NCBI36
NG_012114.1:g.10725_10726insAAACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*229_*230insAAACA MANE Select ENSP00000265340.6:n.*229_*230insAAACA
ENST00000265340.11:c.*229_*230insAAACA ENSP00000265340.6:n.*229_*230insAAACA
NM_002653.4:c.*229_*230insAAACA NP_002644.4:n.*229_*230insAAACA
NM_002653.5:c.*229_*230insAAACA MANE Select NP_002644.4:n.*229_*230insAAACA