Canonical Allele Identifier: CA2612561043
Gene: PTH HGNC NCBI

Linked Data

dbSNP Id: rs2134093042
gnomAD v4: 11-13492584-T-TA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492585dup , CM000673.2:g.13492585dup GRCh38
NC_000011.9:g.13514132dup , CM000673.1:g.13514132dup GRCh37
NC_000011.8:g.13470708dup NCBI36
NG_008962.1:g.8436dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000282091.6:c.168dup MANE Select ENSP00000282091.1:p.Lys57Ter
ENST00000282091.5:c.168dup ENSP00000282091.1:p.Lys57Ter
ENST00000529816.1:c.168dup ENSP00000433208.1:p.Lys57Ter
NM_000315.2:c.168dup NP_000306.1:p.Lys57Ter
NM_000315.3:c.168dup NP_000306.1:p.Lys57Ter
NM_001316352.1:c.264dup NP_001303281.1:p.Lys89Ter
NM_000315.4:c.168dup MANE Select NP_000306.1:p.Lys57Ter
NM_001316352.2:c.264dup NP_001303281.1:p.Lys89Ter
Search 100 bp 5'
Search 100 bp 3'