Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA589532948

Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs34618971

gnomAD v2: 9-100614221-G-GCCC

gnomAD v3: 9-97851939-G-GCCC

gnomAD v4: 9-97851939-G-GCCC

MyVariant Identifiers: chr9:g.100614222_100614223insCCC (hg19) chr9:g.100614221_100614222insCCC (hg19) chr9:g.97851940_97851941insCCC (hg38) chr9:g.97851939_97851940insCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851949_97851951dup , CM000671.2:g.97851949_97851951dup	GRCh38
NC_000009.11:g.100614231_100614233dup , CM000671.1:g.100614231_100614233dup	GRCh37
NC_000009.10:g.99654052_99654054dup	NCBI36
NG_011979.1:g.3695_3697dup

Transcript Alleles

HGVS	Amino-acid change
XR_930158.1:n.218+934_218+936dup
XR_930159.1:n.218+934_218+936dup
XR_930160.1:n.218+934_218+936dup
XR_930161.1:n.218+934_218+936dup
NR_147055.1:n.165+974_165+976dup

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