Canonical Allele Identifier: CA2551894167

Gene: THSD7B

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.137469785_137469786insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT , CM000664.2:g.137469785_137469786insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT	GRCh38
NC_000002.11:g.138227355_138227356insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT , CM000664.1:g.138227355_138227356insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT	GRCh37
NC_000002.10:g.137943825_137943826insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409968.6:c.3138+18762_3138+18763insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT MANE Select	ENSP00000387145.1:n.3138+18762_3138+18763insCTGGGGCATTAGATTAT...
ENST00000272643.7:c.3139+18761_3139+18762insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT	ENSP00000272643.4:n.3139+18761_3139+18762insCTGGGGCATTAGATTAT...
ENST00000409968.5:c.3138+18762_3138+18763insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT	ENSP00000387145.1:n.3138+18762_3138+18763insCTGGGGCATTAGATTAT...
ENST00000413152.3:c.3046+18761_3046+18762insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT	ENSP00000413841.3:n.3046+18761_3046+18762insCTGGGGCATTAGATTAT...
NM_001080427.1:c.3045+18762_3045+18763insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT	NP_001073896.1:n.3045+18762_3045+18763insCTGGGGCATTAGATTATAAG...
NM_001316349.1:c.3138+18762_3138+18763insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT	NP_001303278.1:n.3138+18762_3138+18763insCTGGGGCATTAGATTATAAG...
XM_017005049.1:c.1341+18762_1341+18763insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT	XP_016860538.1:n.1341+18762_1341+18763insCTGGGGCATTAGATTATAAG...
NM_001316349.2:c.3138+18762_3138+18763insCTGGGGCATTAGATTATAAGACGGGAAAAAATATCTTAAATATCCTAAAAGACTATAGTGTGGATGAGAAAAAAACTGTAGTTATTATCACTCACAATAGTTCTATAGCTGAAGCTGCAGATAAGGTAAT MANE Select	NP_001303278.1:n.3138+18762_3138+18763insCTGGGGCATTAGATTATAAG...