Canonical Allele Identifier: CA1977888625

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692410_62692411delinsAG , CM000673.2:g.62692410_62692411delinsAG	GRCh38
NC_000011.9:g.62459882_62459883delinsAG , CM000673.1:g.62459882_62459883delinsAG	GRCh37
NC_000011.8:g.62216458_62216459delinsAG	NCBI36
NG_008461.1:g.22164_22165delinsCT
NG_033077.1:g.2489_2490delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1020_1021delinsCT (BSCL2)
ENST00000449636.6:c.336_337delinsCT (BSCL2)	ENSP00000405265.2:p.Ala112=
ENST00000524862.6:c.828_829delinsCT (BSCL2)	ENSP00000433888.2:p.Ala276=
ENST00000682003.1:n.871_872delinsCT (BSCL2)
ENST00000682223.1:c.828_829delinsCT (BSCL2)	ENSP00000508140.1:p.Ala276=
ENST00000682262.1:c.631-990_631-989delinsCT (BSCL2)	ENSP00000507103.1:n.631-990_631-989delinsCT
ENST00000682555.1:c.746_747delinsCT (BSCL2)	ENSP00000507814.1:p.Pro249=
ENST00000682644.1:n.1220_1221delinsCT (BSCL2)
ENST00000682794.1:n.1138_1139delinsCT (BSCL2)
ENST00000683025.1:c.*475_*476delinsCT (BSCL2)	ENSP00000507028.1:n.*475_*476delinsCT
ENST00000683296.1:c.828_829delinsCT (BSCL2)	ENSP00000507725.1:p.Ala276=
ENST00000683368.1:n.1019_1020delinsCT (BSCL2)
ENST00000683494.1:n.1409_1410delinsCT (BSCL2)
ENST00000683846.1:n.1168_1169delinsCT (BSCL2)
ENST00000683892.1:n.1330_1331delinsCT (BSCL2)
ENST00000684067.1:c.828_829delinsCT (BSCL2)	ENSP00000506799.1:p.Ala276=
ENST00000684115.1:n.1409_1410delinsCT (BSCL2)
ENST00000684258.1:n.1256_1257delinsCT (BSCL2)
ENST00000684285.1:c.*335_*336delinsCT (BSCL2)	ENSP00000507669.1:n.*335_*336delinsCT
ENST00000684475.1:c.693_694delinsCT (BSCL2)	ENSP00000507429.1:p.Ala231=
ENST00000684609.1:n.1220_1221delinsCT (BSCL2)
ENST00000684720.1:n.1220_1221delinsCT (BSCL2)
ENST00000360796.10:c.828_829delinsCT (BSCL2) MANE Select	ENSP00000354032.5:p.Ala276=
ENST00000679883.1:c.828_829delinsCT (BSCL2)	ENSP00000505838.1:p.Ala276=
ENST00000278893.11:c.636_637delinsCT (BSCL2)	ENSP00000278893.7:p.Ala212=
ENST00000301781.10:c.773_774delinsCT (BSCL2)	ENSP00000301781.5:p.Pro258=
ENST00000360796.9:c.828_829delinsCT (BSCL2)	ENSP00000354032.5:p.Ala276=
ENST00000403098.6:c.150_151delinsCT (BSCL2)	ENSP00000384258.2:p.Ala50=
ENST00000403550.5:c.636_637delinsCT (BSCL2)	ENSP00000385561.1:p.Ala212=
ENST00000403734.2:c.*879_*880delinsCT (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*879_*880delinsCT
ENST00000405837.5:c.828_829delinsCT (BSCL2)	ENSP00000385332.1:p.Ala276=
ENST00000407022.7:c.636_637delinsCT (BSCL2)	ENSP00000384080.3:p.Ala212=
ENST00000412351.1:n.426_427delinsCT (BSCL2)
ENST00000421906.5:c.636_637delinsCT (BSCL2)	ENSP00000413209.1:p.Ala212=
ENST00000448568.6:c.636_637delinsCT (BSCL2)	ENSP00000413340.2:p.Ala212=
ENST00000468505.5:n.198_199delinsCT (BSCL2)
ENST00000526426.1:n.352_353delinsCT (BSCL2)
ENST00000532115.5:n.207_208delinsCT (BSCL2)
NM_001122955.3:c.828_829delinsCT (BSCL2)	NP_001116427.1:p.Ala276=
NM_001130702.2:c.636_637delinsCT (BSCL2)	NP_001124174.2:p.Ala212=
NM_032667.6:c.636_637delinsCT (BSCL2)	NP_116056.3:p.Ala212=
NR_037946.1:n.3348_3349delinsCT (HNRNPUL2-BSCL2)
NR_037948.1:n.1430_1431delinsCT (BSCL2)
NR_037949.1:n.1430_1431delinsCT (BSCL2)
NM_001122955.4:c.828_829delinsCT (BSCL2) MANE Select	NP_001116427.1:p.Ala276=
NM_001386027.1:c.828_829delinsCT (BSCL2)	NP_001372956.1:p.Ala276=
NM_001386028.1:c.828_829delinsCT (BSCL2)	NP_001372957.1:p.Ala276=