Canonical Allele Identifier: CA2613985325

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• gnomAD v4: 11-62692316-T-TTGGTGGAAGGTTAGCCCCCGTGAAGAGTTGCCCAAGGTTCACTCCAGTTGGCCCCTCACCTGAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692317_62692382dup , CM000673.2:g.62692317_62692382dup	GRCh38
NC_000011.9:g.62459789_62459854dup , CM000673.1:g.62459789_62459854dup	GRCh37
NC_000011.8:g.62216365_62216430dup	NCBI36
NG_008461.1:g.22193_22258dup
NG_033077.1:g.2518_2583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1049_1055+59dup (BSCL2)
ENST00000449636.6:c.365_371+59dup (BSCL2)
ENST00000524862.6:c.857_863+59dup (BSCL2)
ENST00000682003.1:n.900_906+59dup (BSCL2)
ENST00000682223.1:c.857_863+59dup (BSCL2)
ENST00000682262.1:c.631-961_631-896dup (BSCL2)	ENSP00000507103.1:n.631-961_631-896dup
ENST00000682555.1:c.775_781+59dup (BSCL2)
ENST00000682644.1:n.1249_1255+59dup (BSCL2)
ENST00000682794.1:n.1167_1173+59dup (BSCL2)
ENST00000683025.1:c.*504_*510+59dup (BSCL2)
ENST00000683296.1:c.857_863+59dup (BSCL2)
ENST00000683368.1:n.1048_1054+59dup (BSCL2)
ENST00000683494.1:n.1438_1503dup (BSCL2)
ENST00000683846.1:n.1197_1203+59dup (BSCL2)
ENST00000683892.1:n.1359_1365+59dup (BSCL2)
ENST00000684067.1:c.857_863+59dup (BSCL2)
ENST00000684115.1:n.1438_1444+59dup (BSCL2)
ENST00000684258.1:n.1285_1291+59dup (BSCL2)
ENST00000684285.1:c.*364_*370+59dup (BSCL2)
ENST00000684475.1:c.722_728+59dup (BSCL2)
ENST00000684609.1:n.1249_1255+59dup (BSCL2)
ENST00000684720.1:n.1249_1314dup (BSCL2)
ENST00000360796.10:c.857_863+59dup (BSCL2)
ENST00000679883.1:c.857_863+59dup (BSCL2)
ENST00000278893.11:c.665_671+59dup (BSCL2)
ENST00000301781.10:c.802_808+59dup (BSCL2)
ENST00000360796.9:c.857_863+59dup (BSCL2)
ENST00000403098.6:c.179_185+59dup (BSCL2)
ENST00000403550.5:c.665_671+59dup (BSCL2)
ENST00000403734.2:c.*908_*914+59dup (HNRNPUL2-BSCL2)
ENST00000405837.5:c.857_863+59dup (BSCL2)
ENST00000407022.7:c.665_671+59dup (BSCL2)
ENST00000412351.1:n.455_461+59dup (BSCL2)
ENST00000421906.5:c.665_671+59dup (BSCL2)
ENST00000468505.5:n.227_233+59dup (BSCL2)
ENST00000532115.5:n.236_242+59dup (BSCL2)
NM_001122955.3:c.857_863+59dup (BSCL2)
NM_001130702.2:c.665_671+59dup (BSCL2)
NM_032667.6:c.665_671+59dup (BSCL2)
NR_037946.1:n.3377_3383+59dup (HNRNPUL2-BSCL2)
NR_037948.1:n.1459_1465+59dup (BSCL2)
NR_037949.1:n.1459_1465+59dup (BSCL2)
NM_001122955.4:c.857_863+59dup (BSCL2)
NM_001386027.1:c.857_863+59dup (BSCL2)
NM_001386028.1:c.857_863+59dup (BSCL2)