Canonical Allele Identifier: CA2637931102
Gene: HCRT HGNC NCBI

Linked Data

gnomAD v4: 17-42184631-C-CAGAAAGGAG
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184631_42184632insAGAAAGGAG , CM000679.2:g.42184631_42184632insAGAAAGGAG GRCh38
NC_000017.10:g.40336649_40336650insAGAAAGGAG , CM000679.1:g.40336649_40336650insAGAAAGGAG GRCh37
NC_000017.9:g.37590175_37590176insAGAAAGGAG NCBI36
NG_011448.1:g.5821_5822insCTCCTTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000293330.1:c.22-104_22-103insCTCCTTTCT MANE Select ENSP00000293330.1:n.22-104_22-103insCTCCTTTCT
NM_001524.1:c.22-104_22-103insCTCCTTTCT MANE Select NP_001515.1:n.22-104_22-103insCTCCTTTCT
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