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: CA257749

Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17238

ClinVar RCV Id: RCV000018778

MyVariant Identifiers: chr7:g.94048198_94052613del (hg19) chr7:g.94418886_94423301del (hg38)

PubMed: PMID:3372533

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94418886_94423301del , CM000669.2:g.94418886_94423301del	GRCh38
NC_000007.13:g.94048198_94052613del , CM000669.1:g.94048198_94052613del	GRCh37
NC_000007.12:g.93886134_93890549del	NCBI36
NG_007405.1:g.29326_33741del , LRG_2:g.29326_33741del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.2025+334_2565+183del
ENST00000297268.10:c.2025+334_2565+183del
ENST00000620463.1:c.2019+334_2559+183del
NM_000089.3:c.2025+334_2565+183del , LRG_2t1:c.2025+334_2565+183del
NM_000089.4:c.2025+334_2565+183del

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