Canonical Allele Identifier: CA2343355765
Gene: BRSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308532_55308533delinsAG , CM000681.2:g.55308532_55308533delinsAG GRCh38
NC_000019.9:g.55819900_55819901delinsAG , CM000681.1:g.55819900_55819901delinsAG GRCh37
NC_000019.8:g.60511712_60511713delinsAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2090-107_2090-106delinsAG MANE Select ENSP00000310649.1:n.2090-107_2090-106delinsAG
ENST00000309383.5:c.2090-107_2090-106delinsAG ENSP00000310649.1:n.2090-107_2090-106delinsAG
ENST00000326848.7:c.1175-107_1175-106delinsAG ENSP00000320853.7:n.1175-107_1175-106delinsAG
ENST00000590333.5:c.2138-107_2138-106delinsAG ENSP00000468190.1:n.2138-107_2138-106delinsAG
NM_032430.1:c.2090-107_2090-106delinsAG NP_115806.1:n.2090-107_2090-106delinsAG
XM_005259327.2:c.1820-107_1820-106delinsAG XP_005259384.1:n.1820-107_1820-106delinsAG
XM_011527395.1:c.1847-107_1847-106delinsAG XP_011525697.1:n.1847-107_1847-106delinsAG
XR_430213.2:n.2073-107_2073-106delinsAG
XM_005259327.3:c.1820-107_1820-106delinsAG XP_005259384.1:n.1820-107_1820-106delinsAG
XM_011527395.2:c.1562-107_1562-106delinsAG XP_011525697.2:n.1562-107_1562-106delinsAG
XM_024451739.1:c.1865-107_1865-106delinsAG XP_024307507.1:n.1865-107_1865-106delinsAG
XR_430213.4:n.2371-107_2371-106delinsAG
NM_032430.2:c.2090-107_2090-106delinsAG MANE Select NP_115806.1:n.2090-107_2090-106delinsAG