Canonical Allele Identifier: CA635265826
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1270865998
gnomAD v2: 20-23029879-ATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGT-A
gnomAD v4: 20-23049242-ATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGT-A
MyVariant Identifiers: chr20:g.23029880_23029915del (hg19) chr20:g.23049243_23049278del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049245_23049280del , CM000682.2:g.23049245_23049280del GRCh38
NC_000020.10:g.23029882_23029917del , CM000682.1:g.23029882_23029917del GRCh37
NC_000020.9:g.22977882_22977917del NCBI36
NG_012027.1:g.5387_5422del , LRG_168:g.5387_5422del

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.227_262del MANE Select ENSP00000366307.2:p.Asn76_Trp87del
ENST00000377103.2:c.227_262del ENSP00000366307.2:p.Asn76_Trp87del
NM_000361.2:c.227_262del , LRG_168t1:c.227_262del NP_000352.1:p.Asn76_Trp87del
NM_000361.3:c.227_262del MANE Select NP_000352.1:p.Asn76_Trp87del
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