Canonical Allele Identifier: CA2587278153

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308723-TGGCAGGTGGGTGGTGGGGCCGTGGGTGGTGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308727_55308838del , CM000681.2:g.55308727_55308838del	GRCh38
NC_000019.9:g.55820095_55820206del , CM000681.1:g.55820095_55820206del	GRCh37
NC_000019.8:g.60511907_60512018del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2178_2179+110del
ENST00000309383.5:c.2178_2179+110del
ENST00000326848.7:c.1263_1264+110del
ENST00000590333.5:c.2226_2227+110del
NM_032430.1:c.2178_2179+110del
XM_005259327.2:c.1908_1909+110del
XM_011527395.1:c.1935_1936+110del
XR_430213.2:n.2161_2162+110del
XM_005259327.3:c.1908_1909+110del
XM_011527395.2:c.1650_1651+110del
XM_024451739.1:c.1953_1954+110del
XR_430213.4:n.2459_2460+110del
NM_032430.2:c.2178_2179+110del