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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:
CA274690890
Gene: IQGAP1
HGNC
NCBI
Linked Data
dbSNP Id:
rs201019398
MyVariant Identifiers:
chr15:g.91044385_91044386insT (hg19)
chr15:g.90501153_90501154insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.90501155dup , CM000677.2:g.90501155dup
GRCh38
NC_000015.9:g.91044387dup , CM000677.1:g.91044387dup
GRCh37
NC_000015.8:g.88845391dup
NCBI36
NG_052946.1:g.117915dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000268182.10:c.*1047dup
MANE Select
ENSP00000268182.5:n.*1047dup
ENST00000268182.9:c.*1047dup
ENSP00000268182.5:n.*1047dup
ENST00000558957.1:n.2079dup
ENST00000561086.1:n.1788dup
NM_003870.3:c.*1047dup
NP_003861.1:n.*1047dup
XR_001751409.2:n.6150dup
NM_003870.4:c.*1047dup
MANE Select
NP_003861.1:n.*1047dup
Search 100 bp 5'
Search 100 bp 3'