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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:
CA1627395329
Gene: MMUT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49457929_49457930delinsAT , CM000668.2:g.49457929_49457930delinsAT
GRCh38
NC_000006.11:g.49425642_49425643delinsAT , CM000668.1:g.49425642_49425643delinsAT
GRCh37
NC_000006.10:g.49533601_49533602delinsAT
NCBI36
NG_007100.1:g.10210_10211delinsAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.514_515delinsAT
MANE Select
ENSP00000274813.3:p.Ile172=
ENST00000274813.3:c.514_515delinsAT
ENSP00000274813.3:p.Ile172=
NM_000255.3:c.514_515delinsAT
NP_000246.2:p.Ile172=
XM_005249143.2:c.514_515delinsAT
XP_005249200.1:p.Ile172=
XM_005249143.3:c.514_515delinsAT
XP_005249200.1:p.Ile172=
NM_000255.4:c.514_515delinsAT
MANE Select
NP_000246.2:p.Ile172=
Search 100 bp 5'
Search 100 bp 3'