Canonical Allele Identifier: CA917187580
Gene: CWH43 HGNC NCBI

Linked Data

dbSNP Id: rs1577722027

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.49060877_49060878del , CM000666.2:g.49060877_49060878del GRCh38
NC_000004.11:g.49062894_49062895del , CM000666.1:g.49062894_49062895del GRCh37
NC_000004.10:g.48757651_48757652del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226432.9:c.2022-935_2022-934del MANE Select ENSP00000226432.4:n.2022-935_2022-934del
ENST00000226432.8:c.2022-935_2022-934del ENSP00000226432.4:n.2022-935_2022-934del
ENST00000513409.1:c.1941-935_1941-934del ENSP00000422802.1:n.1941-935_1941-934del
ENST00000514053.6:c.*1032-935_*1032-934del ENSP00000425157.2:n.*1032-935_*1032-934del
NM_001286791.1:c.1941-935_1941-934del NP_001273720.1:n.1941-935_1941-934del
NM_025087.2:c.2022-935_2022-934del NP_079363.2:n.2022-935_2022-934del
XM_011513755.1:c.2079-935_2079-934del XP_011512057.1:n.2079-935_2079-934del
XM_011513756.1:c.1998-935_1998-934del XP_011512058.1:n.1998-935_1998-934del
XM_011513757.1:c.1998-935_1998-934del XP_011512059.1:n.1998-935_1998-934del
XM_011513758.1:c.1821-935_1821-934del XP_011512060.1:n.1821-935_1821-934del
XM_011513759.1:c.1515-935_1515-934del XP_011512061.1:n.1515-935_1515-934del
XM_011513756.3:c.1998-935_1998-934del XP_011512058.1:n.1998-935_1998-934del
XM_011513757.2:c.1998-935_1998-934del XP_011512059.1:n.1998-935_1998-934del
NM_025087.3:c.2022-935_2022-934del MANE Select NP_079363.2:n.2022-935_2022-934del
NM_001286791.2:c.1941-935_1941-934del NP_001273720.1:n.1941-935_1941-934del