Canonical Allele Identifier: CA2260368410
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs2079924075
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184503_42184508dup , CM000679.2:g.42184503_42184508dup GRCh38
NC_000017.10:g.40336521_40336526dup , CM000679.1:g.40336521_40336526dup GRCh37
NC_000017.9:g.37590047_37590052dup NCBI36
NG_011448.1:g.5948_5953dup

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.45_50dup MANE Select ENSP00000293330.1:p.Leu17_Leu18insLeuLeu
NM_001524.1:c.45_50dup MANE Select NP_001515.1:p.Leu17_Leu18insLeuLeu
Search 100 bp 5'
Search 100 bp 3'