Canonical Allele Identifier: CA2675353419

Gene: PITX1

Linked Data

• gnomAD v4: 5-135028548-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028548_135028549insTTT , CM000667.2:g.135028548_135028549insTTT	GRCh38
NC_000005.9:g.134364238_134364239insTTT , CM000667.1:g.134364238_134364239insTTT	GRCh37
NC_000005.8:g.134392137_134392138insTTT	NCBI36
NG_012114.1:g.10726_10727insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*230_*231insAAA MANE Select	ENSP00000265340.6:n.*230_*231insAAA
ENST00000265340.11:c.*230_*231insAAA	ENSP00000265340.6:n.*230_*231insAAA
NM_002653.4:c.*230_*231insAAA	NP_002644.4:n.*230_*231insAAA
NM_002653.5:c.*230_*231insAAA MANE Select	NP_002644.4:n.*230_*231insAAA