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: CA820491967

Gene: SAMD5 HGNC NCBI

Linked Data

dbSNP Id: rs1183368208

gnomAD v3: 6-147795806-CTGATGGCCAG-C

gnomAD v4: 6-147795806-CTGATGGCCAG-C

MyVariant Identifiers: chr6:g.148116943_148116952del (hg19) chr6:g.147795807_147795816del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147795813_147795822del , CM000668.2:g.147795813_147795822del	GRCh38
NC_000006.11:g.148116949_148116958del , CM000668.1:g.148116949_148116958del	GRCh37
NC_000006.10:g.148158642_148158651del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_017010850.1:c.460-151659_460-151650del	XP_016866339.1:n.460-151659_460-151650del...

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