Canonical Allele Identifier: CA290717980
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs951125631
MyVariant Identifiers: chr17:g.40336763_40336764del (hg19) chr17:g.42184745_42184746del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184747_42184748del , CM000679.2:g.42184747_42184748del GRCh38
NC_000017.10:g.40336765_40336766del , CM000679.1:g.40336765_40336766del GRCh37
NC_000017.9:g.37590291_37590292del NCBI36
NG_011448.1:g.5707_5708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-218_22-217del MANE Select ENSP00000293330.1:n.22-218_22-217del
NM_001524.1:c.22-218_22-217del MANE Select NP_001515.1:n.22-218_22-217del
Search 100 bp 5'
Search 100 bp 3'