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: CA8562450

Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs769508264

ExAC: 17:39739456 GGGGCGGACTAAGGGGAGGGCCAAGACTCACT / G

gnomAD v2: 17-39739456-GGGGCGGACTAAGGGGAGGGCCAAGACTCACT-G

gnomAD v4: 17-41583204-GGGGCGGACTAAGGGGAGGGCCAAGACTCACT-G

MyVariant Identifiers: chr17:g.39739457_39739487del (hg19) chr17:g.41583205_41583235del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41583210_41583240del , CM000679.2:g.41583210_41583240del	GRCh38
NC_000017.10:g.39739462_39739492del , CM000679.1:g.39739462_39739492del	GRCh37
NC_000017.9:g.36992988_36993018del	NCBI36
NG_008624.1:g.8661_8691del

Transcript Alleles

HGVS	Amino-acid change
ENST00000167586.7:c.1274_1274+30del
ENST00000167586.6:c.1274_1274+30del
ENST00000441550.2:n.221_221+30del
NM_000526.4:c.1274_1274+30del
NM_000526.5:c.1274_1274+30del

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