Canonical Allele Identifier: CA1456062969
Gene: CWH43 HGNC NCBI

Linked Data

dbSNP Id: rs1785135846

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.49060904_49060905del , CM000666.2:g.49060904_49060905del GRCh38
NC_000004.11:g.49062921_49062922del , CM000666.1:g.49062921_49062922del GRCh37
NC_000004.10:g.48757678_48757679del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226432.9:c.2022-908_2022-907del MANE Select ENSP00000226432.4:n.2022-908_2022-907del
ENST00000226432.8:c.2022-908_2022-907del ENSP00000226432.4:n.2022-908_2022-907del
ENST00000513409.1:c.1941-908_1941-907del ENSP00000422802.1:n.1941-908_1941-907del
ENST00000514053.6:c.*1032-908_*1032-907del ENSP00000425157.2:n.*1032-908_*1032-907del
NM_001286791.1:c.1941-908_1941-907del NP_001273720.1:n.1941-908_1941-907del
NM_025087.2:c.2022-908_2022-907del NP_079363.2:n.2022-908_2022-907del
XM_011513755.1:c.2079-908_2079-907del XP_011512057.1:n.2079-908_2079-907del
XM_011513756.1:c.1998-908_1998-907del XP_011512058.1:n.1998-908_1998-907del
XM_011513757.1:c.1998-908_1998-907del XP_011512059.1:n.1998-908_1998-907del
XM_011513758.1:c.1821-908_1821-907del XP_011512060.1:n.1821-908_1821-907del
XM_011513759.1:c.1515-908_1515-907del XP_011512061.1:n.1515-908_1515-907del
XM_011513756.3:c.1998-908_1998-907del XP_011512058.1:n.1998-908_1998-907del
XM_011513757.2:c.1998-908_1998-907del XP_011512059.1:n.1998-908_1998-907del
NM_025087.3:c.2022-908_2022-907del MANE Select NP_079363.2:n.2022-908_2022-907del
NM_001286791.2:c.1941-908_1941-907del NP_001273720.1:n.1941-908_1941-907del