Canonical Allele Identifier: CA2343356047

Gene: BRSK1 TMEM150B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308880_55308885delinsGGGTTT , CM000681.2:g.55308880_55308885delinsGGGTTT	GRCh38
NC_000019.9:g.55820248_55820253delinsGGGTTT , CM000681.1:g.55820248_55820253delinsGGGTTT	GRCh37
NC_000019.8:g.60512060_60512065delinsGGGTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+152_2179+157delinsGGGTTT (BRSK1) MANE Select	ENSP00000310649.1:n.2179+152_2179+157delinsGGGTTT
ENST00000309383.5:c.2179+152_2179+157delinsGGGTTT (BRSK1)	ENSP00000310649.1:n.2179+152_2179+157delinsGGGTTT
ENST00000326848.7:c.1264+152_1264+157delinsGGGTTT (BRSK1)	ENSP00000320853.7:n.1264+152_1264+157delinsGGGTTT
ENST00000590333.5:c.2227+152_2227+157delinsGGGTTT (BRSK1)	ENSP00000468190.1:n.2227+152_2227+157delinsGGGTTT
NM_032430.1:c.2179+152_2179+157delinsGGGTTT (BRSK1)	NP_115806.1:n.2179+152_2179+157delinsGGGTTT
XM_005259327.2:c.1909+152_1909+157delinsGGGTTT (BRSK1)	XP_005259384.1:n.1909+152_1909+157delinsGGGTTT
XM_011527395.1:c.1936+152_1936+157delinsGGGTTT (BRSK1)	XP_011525697.1:n.1936+152_1936+157delinsGGGTTT
XR_430213.2:n.2162+152_2162+157delinsGGGTTT (BRSK1)
XM_005259327.3:c.1909+152_1909+157delinsGGGTTT (BRSK1)	XP_005259384.1:n.1909+152_1909+157delinsGGGTTT
XM_011526850.3:c.*1340_*1345delinsAAACCC (TMEM150B)	XP_011525152.1:n.*1340_*1345delinsAAACCC
XM_011527395.2:c.1651+152_1651+157delinsGGGTTT (BRSK1)	XP_011525697.2:n.1651+152_1651+157delinsGGGTTT
XM_024451739.1:c.1954+152_1954+157delinsGGGTTT (BRSK1)	XP_024307507.1:n.1954+152_1954+157delinsGGGTTT
XR_430213.4:n.2460+152_2460+157delinsGGGTTT (BRSK1)
NM_032430.2:c.2179+152_2179+157delinsGGGTTT (BRSK1) MANE Select	NP_115806.1:n.2179+152_2179+157delinsGGGTTT