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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:
CA133891522
Gene: F13A1
HGNC
NCBI
Linked Data
dbSNP Id:
rs34270368
MyVariant Identifiers:
chr6:g.6145236_6145237insT (hg19)
chr6:g.6145003_6145004insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.6145006dup , CM000668.2:g.6145006dup
GRCh38
NC_000006.11:g.6145239dup , CM000668.1:g.6145239dup
GRCh37
NC_000006.10:g.6090238dup
NCBI36
NG_008107.1:g.180688dup , LRG_549:g.180688dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000264870.8:c.*615dup
MANE Select
ENSP00000264870.3:n.*615dup
ENST00000264870.7:c.*615dup
ENSP00000264870.3:n.*615dup
NM_000129.3:c.*615dup , LRG_549t1:c.*615dup
NP_000120.2:n.*615dup
XM_006715010.2:c.*615dup
XP_006715073.1:n.*615dup
XM_011514342.1:c.*615dup
XP_011512644.1:n.*615dup
NM_000129.4:c.*615dup
MANE Select
NP_000120.2:n.*615dup
Search 100 bp 5'
Search 100 bp 3'