Canonical Allele Identifier: CA2260368534
Gene: HCRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184744_42184746delinsCTT , CM000679.2:g.42184744_42184746delinsCTT GRCh38
NC_000017.10:g.40336762_40336764delinsCTT , CM000679.1:g.40336762_40336764delinsCTT GRCh37
NC_000017.9:g.37590288_37590290delinsCTT NCBI36
NG_011448.1:g.5707_5709delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-218_22-216delinsAAG MANE Select ENSP00000293330.1:n.22-218_22-216delinsAAG
NM_001524.1:c.22-218_22-216delinsAAG MANE Select NP_001515.1:n.22-218_22-216delinsAAG