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: CA771857750

Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs1478259416

MyVariant Identifiers: chr17:g.37821592_37821593del (hg19) chr17:g.39665339_39665340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665345_39665346del , CM000679.2:g.39665345_39665346del	GRCh38
NC_000017.10:g.37821598_37821599del , CM000679.1:g.37821598_37821599del	GRCh37
NC_000017.9:g.35075124_35075125del	NCBI36
NG_008892.1:g.5000_5001del , LRG_210:g.5000_5001del
NG_042278.1:g.2365_2366del

Transcript Alleles

HGVS	Amino-acid change
ENST00000309889.2:c.-15_-14del	ENSP00000312624.2:n.-15_-14del

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