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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:
CA1330889705
Gene: KCNE4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.223053262_223053265delinsCGAT , CM000664.2:g.223053262_223053265delinsCGAT
GRCh38
NC_000002.11:g.223917980_223917983delinsCGAT , CM000664.1:g.223917980_223917983delinsCGAT
GRCh37
NC_000002.10:g.223626224_223626227delinsCGAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000281830.4:c.432_435delinsCGAT
MANE Select
ENSP00000281830.5:p.Asp144=
ENST00000281830.3:c.585_588delinsCGAT
ENSP00000281830.4:p.Asp195=
ENST00000488477.2:n.75+988_75+991delinsCGAT
NM_080671.3:c.585_588delinsCGAT
NP_542402.3:p.Asp195=
NM_080671.4:c.432_435delinsCGAT
MANE Select
NP_542402.4:p.Asp144=
Search 100 bp 5'
Search 100 bp 3'