Canonical Allele Identifier: CA997262942

Gene: BRSK1

Linked Data

• dbSNP Id: rs2088716789
• gnomAD v3: 19-55308825-TGGGTGGCGGGGGCGGTGGGTGGC-T
• gnomAD v4: 19-55308825-TGGGTGGCGGGGGCGGTGGGTGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308829_55308851del , CM000681.2:g.55308829_55308851del	GRCh38
NC_000019.9:g.55820197_55820219del , CM000681.1:g.55820197_55820219del	GRCh37
NC_000019.8:g.60512009_60512031del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+101_2179+123del MANE Select	ENSP00000310649.1:n.2179+101_2179+123del
ENST00000309383.5:c.2179+101_2179+123del	ENSP00000310649.1:n.2179+101_2179+123del
ENST00000326848.7:c.1264+101_1264+123del	ENSP00000320853.7:n.1264+101_1264+123del
ENST00000590333.5:c.2227+101_2227+123del	ENSP00000468190.1:n.2227+101_2227+123del
NM_032430.1:c.2179+101_2179+123del	NP_115806.1:n.2179+101_2179+123del
XM_005259327.2:c.1909+101_1909+123del	XP_005259384.1:n.1909+101_1909+123del
XM_011527395.1:c.1936+101_1936+123del	XP_011525697.1:n.1936+101_1936+123del
XR_430213.2:n.2162+101_2162+123del
XM_005259327.3:c.1909+101_1909+123del	XP_005259384.1:n.1909+101_1909+123del
XM_011527395.2:c.1651+101_1651+123del	XP_011525697.2:n.1651+101_1651+123del
XM_024451739.1:c.1954+101_1954+123del	XP_024307507.1:n.1954+101_1954+123del
XR_430213.4:n.2460+101_2460+123del
NM_032430.2:c.2179+101_2179+123del MANE Select	NP_115806.1:n.2179+101_2179+123del