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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2036493903
Gene: KRT6B
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52447772_52447773delinsAC , CM000674.2:g.52447772_52447773delinsAC
GRCh38
NC_000012.11:g.52841556_52841557delinsAC , CM000674.1:g.52841556_52841557delinsAC
GRCh37
NC_000012.10:g.51127823_51127824delinsAC
NCBI36
NG_008299.1:g.9354_9355delinsGT
Transcript Alleles
HGVS
Amino-acid change
ENST00000252252.4:c.1424+5_1424+6delinsGT
MANE Select
ENSP00000252252.3:n.1424+5_1424+6delinsGT
ENST00000252252.3:c.1424+5_1424+6delinsGT
ENSP00000252252.3:n.1424+5_1424+6delinsGT
NM_005555.3:c.1424+5_1424+6delinsGT
NP_005546.2:n.1424+5_1424+6delinsGT
NM_005555.4:c.1424+5_1424+6delinsGT
MANE Select
NP_005546.2:n.1424+5_1424+6delinsGT
Search 100 bp 5'
Search 100 bp 3'