Canonical Allele Identifier: CA8573269
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs747632842
ExAC: 17:40336500 G / GGCAGCA
gnomAD v2: 17-40336500-G-GGCAGCA
gnomAD v3: 17-42184482-G-GGCAGCA
gnomAD v4: 17-42184482-G-GGCAGCA
MyVariant Identifiers: chr17:g.40336509_40336510insGCAGCA (hg19) chr17:g.40336506_40336507insGCAGCA (hg19) chr17:g.40336500_40336501insGCAGCA (hg19) chr17:g.42184488_42184489insGCAGCA (hg38) chr17:g.42184482_42184483insGCAGCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184499_42184504dup , CM000679.2:g.42184499_42184504dup GRCh38
NC_000017.10:g.40336517_40336522dup , CM000679.1:g.40336517_40336522dup GRCh37
NC_000017.9:g.37590043_37590048dup NCBI36
NG_011448.1:g.5965_5970dup

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.62_67dup MANE Select ENSP00000293330.1:p.Leu22_Pro23insLeuLeu
NM_001524.1:c.62_67dup MANE Select NP_001515.1:p.Leu22_Pro23insLeuLeu
Search 100 bp 5'
Search 100 bp 3'