Canonical Allele Identifier: CA5893175

Gene: PTH

Linked Data

• dbSNP Id: rs749037995
• ExAC: 11:13514097 AG / A
• gnomAD v2: 11-13514097-AG-A
• gnomAD v4: 11-13492550-AG-A
• MyVariant Identifiers: chr11:g.13514098del (hg19) ; chr11:g.13492551del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492553del , CM000673.2:g.13492553del	GRCh38
NC_000011.9:g.13514100del , CM000673.1:g.13514100del	GRCh37
NC_000011.8:g.13470676del	NCBI36
NG_008962.1:g.8470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282091.6:c.202del MANE Select	ENSP00000282091.1:p.Gly69GlufsTer4
ENST00000282091.5:c.202del	ENSP00000282091.1:p.Gly69GlufsTer4
ENST00000529816.1:c.202del	ENSP00000433208.1:p.Gly69GlufsTer4
NM_000315.2:c.202del	NP_000306.1:p.Gly69GlufsTer4
NM_000315.3:c.202del	NP_000306.1:p.Gly69GlufsTer4
NM_001316352.1:c.298del	NP_001303281.1:p.Gly101GlufsTer4
NM_000315.4:c.202del MANE Select	NP_000306.1:p.Gly69GlufsTer4
NM_001316352.2:c.298del	NP_001303281.1:p.Gly101GlufsTer4