Canonical Allele Identifier: CA2675353207

Gene: PITX1

Linked Data

• gnomAD v4: 5-135028348-TCCGGATCCAGCGCGGCGGGGACGCGGGATACGAGGTCGTCCTCCCCCGGCCGCTGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028351_135028407del , CM000667.2:g.135028351_135028407del	GRCh38
NC_000005.9:g.134364041_134364097del , CM000667.1:g.134364041_134364097del	GRCh37
NC_000005.8:g.134391940_134391996del	NCBI36
NG_012114.1:g.10870_10926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*374_*430del MANE Select	ENSP00000265340.6:n.*374_*430del
ENST00000265340.11:c.*374_*430del	ENSP00000265340.6:n.*374_*430del
NM_002653.4:c.*374_*430del	NP_002644.4:n.*374_*430del
NM_002653.5:c.*374_*430del MANE Select	NP_002644.4:n.*374_*430del