ClinGen Allele Registry
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Canonical Allele Identifier:
CA130189201
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.157603141_157603142insA
GRCh38
chr5:g.157603140_157603141insA
GRCh37
chr5:g.157030149_157030150insA
GRCh37
chr5:g.157030148_157030149insA
Linked Data - Sequence & Population
gnomAD v2:
5:157030148 T / TA
gnomAD v3:
5:157603140 T / TA
gnomAD v4:
chr5-157603140-T-TA
Joint Max Group AF
0.00036787 (NFE)
Genomes Max Group AF
0.00036787 (NFE)
Linked Data - NCBI & NCI
dbSNP:
891250397
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.157603148dup , CM000667.2:g.157603148dup
GRCh38
NC_000005.9:g.157030156dup , CM000667.1:g.157030156dup
GRCh37
NC_000005.8:g.156962734dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'