Canonical Allele Identifier: CA290717955
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs749966324
gnomAD v3: 17-42184611-GCTCCGC-G
gnomAD v4: 17-42184611-GCTCCGC-G
MyVariant Identifiers: chr17:g.40336630_40336635del (hg19) chr17:g.42184612_42184617del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184612_42184617del , CM000679.2:g.42184612_42184617del GRCh38
NC_000017.10:g.40336630_40336635del , CM000679.1:g.40336630_40336635del GRCh37
NC_000017.9:g.37590156_37590161del NCBI36
NG_011448.1:g.5836_5841del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-89_22-84del MANE Select ENSP00000293330.1:n.22-89_22-84del
NM_001524.1:c.22-89_22-84del MANE Select NP_001515.1:n.22-89_22-84del
Search 100 bp 5'
Search 100 bp 3'