Canonical Allele Identifier: CA917587375

Gene: PITX1

Linked Data

• dbSNP Id: rs1561470318
• gnomAD v3: 5-135028548-G-GTTTTTTTTTTT
• gnomAD v4: 5-135028548-G-GTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028548_135028549insTTTTTTTTTTT , CM000667.2:g.135028548_135028549insTTTTTTTTTTT	GRCh38
NC_000005.9:g.134364238_134364239insTTTTTTTTTTT , CM000667.1:g.134364238_134364239insTTTTTTTTTTT	GRCh37
NC_000005.8:g.134392137_134392138insTTTTTTTTTTT	NCBI36
NG_012114.1:g.10726_10727insAAAAAAAAAAA

Transcript Alleles

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