Canonical Allele Identifier: CA804232306
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1554070481
MyVariant Identifiers: chr5:g.134364157_134364158insAAC (hg19) chr5:g.135028467_135028468insAAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028468_135028469insACA , CM000667.2:g.135028468_135028469insACA GRCh38
NC_000005.9:g.134364158_134364159insACA , CM000667.1:g.134364158_134364159insACA GRCh37
NC_000005.8:g.134392057_134392058insACA NCBI36
NG_012114.1:g.10807_10808insGTT

Transcript Alleles

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