Canonical Allele Identifier: CA1081831194

Gene: PITX1

Linked Data

• dbSNP Id: rs1752389295
• gnomAD v3: 5-135028541-TCTTTTTG-T
• gnomAD v4: 5-135028541-TCTTTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028548_135028554del , CM000667.2:g.135028548_135028554del	GRCh38
NC_000005.9:g.134364238_134364244del , CM000667.1:g.134364238_134364244del	GRCh37
NC_000005.8:g.134392137_134392143del	NCBI36
NG_012114.1:g.10727_10733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*231_*237del MANE Select	ENSP00000265340.6:n.*231_*237del
ENST00000265340.11:c.*231_*237del	ENSP00000265340.6:n.*231_*237del
NM_002653.4:c.*231_*237del	NP_002644.4:n.*231_*237del
NM_002653.5:c.*231_*237del MANE Select	NP_002644.4:n.*231_*237del