Canonical Allele Identifier: CA2355681539
Gene: THBD HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049368_23049386delinsAGGAAGGTCGCGGGGCCCG , CM000682.2:g.23049368_23049386delinsAGGAAGGTCGCGGGGCCCG GRCh38
NC_000020.10:g.23030005_23030023delinsAGGAAGGTCGCGGGGCCCG , CM000682.1:g.23030005_23030023delinsAGGAAGGTCGCGGGGCCCG GRCh37
NC_000020.9:g.22978005_22978023delinsAGGAAGGTCGCGGGGCCCG NCBI36
NG_012027.1:g.5279_5297delinsCGGGCCCCGCGACCTTCCT , LRG_168:g.5279_5297delinsCGGGCCCCGCGACCTTCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.119_137delinsCGGGCCCCGCGACCTTCCT MANE Select ENSP00000366307.2:p.Pro40=
ENST00000377103.2:c.119_137delinsCGGGCCCCGCGACCTTCCT ENSP00000366307.2:p.Pro40=
NM_000361.2:c.119_137delinsCGGGCCCCGCGACCTTCCT , LRG_168t1:c.119_137delinsCGGGCCCCGCGACCTTCCT NP_000352.1:p.Pro40=
NM_000361.3:c.119_137delinsCGGGCCCCGCGACCTTCCT MANE Select NP_000352.1:p.Pro40=
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