Canonical Allele Identifier: CA1977888842

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692479_62692480delinsAG , CM000673.2:g.62692479_62692480delinsAG	GRCh38
NC_000011.9:g.62459951_62459952delinsAG , CM000673.1:g.62459951_62459952delinsAG	GRCh37
NC_000011.8:g.62216527_62216528delinsAG	NCBI36
NG_008461.1:g.22095_22096delinsCT
NG_033077.1:g.2420_2421delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.958-7_958-6delinsCT (BSCL2)
ENST00000449636.6:c.274-7_274-6delinsCT (BSCL2)	ENSP00000405265.2:n.274-7_274-6delinsCT
ENST00000524862.6:c.766-7_766-6delinsCT (BSCL2)	ENSP00000433888.2:n.766-7_766-6delinsCT
ENST00000682003.1:n.809-7_809-6delinsCT (BSCL2)
ENST00000682223.1:c.766-7_766-6delinsCT (BSCL2)	ENSP00000508140.1:n.766-7_766-6delinsCT
ENST00000682262.1:c.631-1059_631-1058delinsCT (BSCL2)	ENSP00000507103.1:n.631-1059_631-1058deli...
ENST00000682555.1:c.684-7_684-6delinsCT (BSCL2)	ENSP00000507814.1:n.684-7_684-6delinsCT
ENST00000682644.1:n.1158-7_1158-6delinsCT (BSCL2)
ENST00000682794.1:n.1076-7_1076-6delinsCT (BSCL2)
ENST00000683025.1:c.*413-7_*413-6delinsCT (BSCL2)	ENSP00000507028.1:n.*413-7_*413-6delinsCT...
ENST00000683296.1:c.766-7_766-6delinsCT (BSCL2)	ENSP00000507725.1:n.766-7_766-6delinsCT
ENST00000683368.1:n.957-7_957-6delinsCT (BSCL2)
ENST00000683494.1:n.1340_1341delinsCT (BSCL2)
ENST00000683846.1:n.1106-7_1106-6delinsCT (BSCL2)
ENST00000683892.1:n.1268-7_1268-6delinsCT (BSCL2)
ENST00000684067.1:c.766-7_766-6delinsCT (BSCL2)	ENSP00000506799.1:n.766-7_766-6delinsCT
ENST00000684115.1:n.1340_1341delinsCT (BSCL2)
ENST00000684258.1:n.1194-7_1194-6delinsCT (BSCL2)
ENST00000684285.1:c.*273-7_*273-6delinsCT (BSCL2)	ENSP00000507669.1:n.*273-7_*273-6delinsCT...
ENST00000684475.1:c.631-7_631-6delinsCT (BSCL2)	ENSP00000507429.1:n.631-7_631-6delinsCT
ENST00000684609.1:n.1158-7_1158-6delinsCT (BSCL2)
ENST00000684720.1:n.1158-7_1158-6delinsCT (BSCL2)
ENST00000360796.10:c.766-7_766-6delinsCT (BSCL2) MANE Select	ENSP00000354032.5:n.766-7_766-6delinsCT
ENST00000679883.1:c.766-7_766-6delinsCT (BSCL2)	ENSP00000505838.1:n.766-7_766-6delinsCT
ENST00000278893.11:c.574-7_574-6delinsCT (BSCL2)	ENSP00000278893.7:n.574-7_574-6delinsCT
ENST00000301781.10:c.711-7_711-6delinsCT (BSCL2)	ENSP00000301781.5:n.711-7_711-6delinsCT
ENST00000360796.9:c.766-7_766-6delinsCT (BSCL2)	ENSP00000354032.5:n.766-7_766-6delinsCT
ENST00000403098.6:c.88-7_88-6delinsCT (BSCL2)	ENSP00000384258.2:n.88-7_88-6delinsCT
ENST00000403550.5:c.574-7_574-6delinsCT (BSCL2)	ENSP00000385561.1:n.574-7_574-6delinsCT
ENST00000403734.2:c.*817-7_*817-6delinsCT (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*817-7_*817-6delinsCT...
ENST00000405837.5:c.766-7_766-6delinsCT (BSCL2)	ENSP00000385332.1:n.766-7_766-6delinsCT
ENST00000407022.7:c.574-7_574-6delinsCT (BSCL2)	ENSP00000384080.3:n.574-7_574-6delinsCT
ENST00000412351.1:n.364-7_364-6delinsCT (BSCL2)
ENST00000421906.5:c.574-7_574-6delinsCT (BSCL2)	ENSP00000413209.1:n.574-7_574-6delinsCT
ENST00000448568.6:c.574-7_574-6delinsCT (BSCL2)	ENSP00000413340.2:n.574-7_574-6delinsCT
ENST00000468505.5:n.136-7_136-6delinsCT (BSCL2)
ENST00000526426.1:n.290-7_290-6delinsCT (BSCL2)
ENST00000532115.5:n.145-7_145-6delinsCT (BSCL2)
NM_001122955.3:c.766-7_766-6delinsCT (BSCL2)	NP_001116427.1:n.766-7_766-6delinsCT
NM_001130702.2:c.574-7_574-6delinsCT (BSCL2)	NP_001124174.2:n.574-7_574-6delinsCT
NM_032667.6:c.574-7_574-6delinsCT (BSCL2)	NP_116056.3:n.574-7_574-6delinsCT
NR_037946.1:n.3286-7_3286-6delinsCT (HNRNPUL2-BSCL2)
NR_037948.1:n.1368-7_1368-6delinsCT (BSCL2)
NR_037949.1:n.1368-7_1368-6delinsCT (BSCL2)
NM_001122955.4:c.766-7_766-6delinsCT (BSCL2) MANE Select	NP_001116427.1:n.766-7_766-6delinsCT
NM_001386027.1:c.766-7_766-6delinsCT (BSCL2)	NP_001372956.1:n.766-7_766-6delinsCT
NM_001386028.1:c.766-7_766-6delinsCT (BSCL2)	NP_001372957.1:n.766-7_766-6delinsCT