Canonical Allele Identifier: CA1113244317

Gene: THAP1

Linked Data

• dbSNP Id: rs1802662957
• gnomAD v3: 8-42838785-AAC-A
• gnomAD v4: 8-42838785-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42838787_42838788del , CM000670.2:g.42838787_42838788del	GRCh38
NC_000008.10:g.42693930_42693931del , CM000670.1:g.42693930_42693931del	GRCh37
NC_000008.9:g.42813087_42813088del	NCBI36
NG_011837.1:g.9545_9546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.267+399_267+400del MANE Select	ENSP00000254250.3:n.267+399_267+400del
ENST00000345117.2:c.72-451_72-450del	ENSP00000344966.2:n.72-451_72-450del
ENST00000529779.1:c.267+399_267+400del	ENSP00000433912.1:n.267+399_267+400del
NM_018105.2:c.267+399_267+400del	NP_060575.1:n.267+399_267+400del
NM_199003.1:c.72-451_72-450del	NP_945354.1:n.72-451_72-450del
NM_018105.3:c.267+399_267+400del MANE Select	NP_060575.1:n.267+399_267+400del
NM_199003.2:c.72-451_72-450del	NP_945354.1:n.72-451_72-450del