Canonical Allele Identifier: CA804232529
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1313500818

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028574_135028578del , CM000667.2:g.135028574_135028578del GRCh38
NC_000005.9:g.134364264_134364268del , CM000667.1:g.134364264_134364268del GRCh37
NC_000005.8:g.134392163_134392167del NCBI36
NG_012114.1:g.10699_10703del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*203_*207del MANE Select ENSP00000265340.6:n.*203_*207del
ENST00000265340.11:c.*203_*207del ENSP00000265340.6:n.*203_*207del
ENST00000506438.5:c.*203_*207del ENSP00000427542.1:n.*203_*207del
NM_002653.4:c.*203_*207del NP_002644.4:n.*203_*207del
NM_002653.5:c.*203_*207del MANE Select NP_002644.4:n.*203_*207del