Canonical Allele Identifier: CA679070004

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• dbSNP Id: rs1405029544
• gnomAD v3: 11-62692114-TGGATGGCAGGGC-T
• gnomAD v4: 11-62692114-TGGATGGCAGGGC-T
• MyVariant Identifiers: chr11:g.62459587_62459598del (hg19) ; chr11:g.62692115_62692126del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692118_62692129del , CM000673.2:g.62692118_62692129del	GRCh38
NC_000011.9:g.62459590_62459601del , CM000673.1:g.62459590_62459601del	GRCh37
NC_000011.8:g.62216166_62216177del	NCBI36
NG_008461.1:g.22449_22460del
NG_033077.1:g.2774_2785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1055+250_1055+261del (BSCL2)
ENST00000449636.6:c.371+250_371+261del (BSCL2)	ENSP00000405265.2:n.371+250_371+261del
ENST00000524862.6:c.863+250_863+261del (BSCL2)	ENSP00000433888.2:n.863+250_863+261del
ENST00000682003.1:n.906+250_906+261del (BSCL2)
ENST00000682223.1:c.863+250_863+261del (BSCL2)	ENSP00000508140.1:n.863+250_863+261del
ENST00000682262.1:c.631-705_631-694del (BSCL2)	ENSP00000507103.1:n.631-705_631-694del
ENST00000682555.1:c.781+250_781+261del (BSCL2)	ENSP00000507814.1:n.781+250_781+261del
ENST00000682644.1:n.1255+250_1255+261del (BSCL2)
ENST00000682794.1:n.1173+250_1173+261del (BSCL2)
ENST00000683025.1:c.*510+250_*510+261del (BSCL2)	ENSP00000507028.1:n.*510+250_*510+261del
ENST00000683296.1:c.863+250_863+261del (BSCL2)	ENSP00000507725.1:n.863+250_863+261del
ENST00000683368.1:n.1054+250_1054+261del (BSCL2)
ENST00000683494.1:n.1694_1705del (BSCL2)
ENST00000683846.1:n.1203+250_1203+261del (BSCL2)
ENST00000683892.1:n.1365+250_1365+261del (BSCL2)
ENST00000684067.1:c.863+250_863+261del (BSCL2)	ENSP00000506799.1:n.863+250_863+261del
ENST00000684115.1:n.1444+250_1444+261del (BSCL2)
ENST00000684258.1:n.1291+250_1291+261del (BSCL2)
ENST00000684285.1:c.*370+250_*370+261del (BSCL2)	ENSP00000507669.1:n.*370+250_*370+261del
ENST00000684475.1:c.728+250_728+261del (BSCL2)	ENSP00000507429.1:n.728+250_728+261del
ENST00000684609.1:n.1255+250_1255+261del (BSCL2)
ENST00000684720.1:n.1505_1516del (BSCL2)
ENST00000360796.10:c.863+250_863+261del (BSCL2) MANE Select	ENSP00000354032.5:n.863+250_863+261del
ENST00000679883.1:c.863+250_863+261del (BSCL2)	ENSP00000505838.1:n.863+250_863+261del
ENST00000278893.11:c.671+250_671+261del (BSCL2)	ENSP00000278893.7:n.671+250_671+261del
ENST00000301781.10:c.808+250_808+261del (BSCL2)	ENSP00000301781.5:n.808+250_808+261del
ENST00000360796.9:c.863+250_863+261del (BSCL2)	ENSP00000354032.5:n.863+250_863+261del
ENST00000403098.6:c.185+250_185+261del (BSCL2)	ENSP00000384258.2:n.185+250_185+261del
ENST00000403550.5:c.671+250_671+261del (BSCL2)	ENSP00000385561.1:n.671+250_671+261del
ENST00000403734.2:c.*914+250_*914+261del (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*914+250_*914+261del
ENST00000405837.5:c.863+250_863+261del (BSCL2)	ENSP00000385332.1:n.863+250_863+261del
ENST00000407022.7:c.671+250_671+261del (BSCL2)	ENSP00000384080.3:n.671+250_671+261del
ENST00000412351.1:n.461+250_461+261del (BSCL2)
ENST00000421906.5:c.671+250_671+261del (BSCL2)	ENSP00000413209.1:n.671+250_671+261del
ENST00000468505.5:n.233+250_233+261del (BSCL2)
ENST00000532115.5:n.242+250_242+261del (BSCL2)
NM_001122955.3:c.863+250_863+261del (BSCL2)	NP_001116427.1:n.863+250_863+261del
NM_001130702.2:c.671+250_671+261del (BSCL2)	NP_001124174.2:n.671+250_671+261del
NM_032667.6:c.671+250_671+261del (BSCL2)	NP_116056.3:n.671+250_671+261del
NR_037946.1:n.3383+250_3383+261del (HNRNPUL2-BSCL2)
NR_037948.1:n.1465+250_1465+261del (BSCL2)
NR_037949.1:n.1465+250_1465+261del (BSCL2)
NM_001122955.4:c.863+250_863+261del (BSCL2) MANE Select	NP_001116427.1:n.863+250_863+261del
NM_001386027.1:c.863+250_863+261del (BSCL2)	NP_001372956.1:n.863+250_863+261del
NM_001386028.1:c.863+250_863+261del (BSCL2)	NP_001372957.1:n.863+250_863+261del