×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1803800152
Gene: NDUFAF6
HGNC
NCBI
MIR3150BHG
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.95114724_95114728delinsTTTTC , CM000670.2:g.95114724_95114728delinsTTTTC
GRCh38
NC_000008.10:g.96126952_96126956delinsTTTTC , CM000670.1:g.96126952_96126956delinsTTTTC
GRCh37
NC_000008.9:g.96196128_96196132delinsTTTTC
NCBI36
NG_016647.2:g.224454_224458delinsTTTTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000523184.5:n.345-812_345-808delinsTTTTC
(NDUFAF6)
XR_928428.1:n.362-812_362-808delinsTTTTC
(MIR3150BHG)
NR_148913.1:n.1081-812_1081-808delinsTTTTC
(NDUFAF6)
NR_148914.1:n.1278-812_1278-808delinsTTTTC
(NDUFAF6)
NR_148913.2:n.1067-812_1067-808delinsTTTTC
(NDUFAF6)
NR_148914.2:n.1264-812_1264-808delinsTTTTC
(NDUFAF6)
Search 100 bp 5'
Search 100 bp 3'