Canonical Allele Identifier: CA804232849

Gene: PITX1

Linked Data

• dbSNP Id: rs1310469452
• gnomAD v3: 5-135028795-CA-C
• gnomAD v4: 5-135028795-CA-C
• MyVariant Identifiers: chr5:g.134364486del (hg19) ; chr5:g.135028796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028796del , CM000667.2:g.135028796del	GRCh38
NC_000005.9:g.134364486del , CM000667.1:g.134364486del	GRCh37
NC_000005.8:g.134392385del	NCBI36
NG_012114.1:g.10479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.928del MANE Select	ENSP00000265340.6:p.Cys310AlafsTer?
ENST00000265340.11:c.928del	ENSP00000265340.6:p.Cys310AlafsTer?
ENST00000506438.5:c.928del	ENSP00000427542.1:p.Cys310AlafsTer?
NM_002653.4:c.928del	NP_002644.4:p.Cys310AlafsTer?
NM_002653.5:c.928del MANE Select	NP_002644.4:p.Cys310AlafsTer?