Canonical Allele Identifier: CA2613985707

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• gnomAD v4: 11-62692480-GGGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692487_62692491del , CM000673.2:g.62692487_62692491del	GRCh38
NC_000011.9:g.62459959_62459963del , CM000673.1:g.62459959_62459963del	GRCh37
NC_000011.8:g.62216535_62216539del	NCBI36
NG_008461.1:g.22090_22094del
NG_033077.1:g.2415_2419del

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.958-12_958-8del (BSCL2)
ENST00000449636.6:c.274-12_274-8del (BSCL2)	ENSP00000405265.2:n.274-12_274-8del
ENST00000524862.6:c.766-12_766-8del (BSCL2)	ENSP00000433888.2:n.766-12_766-8del
ENST00000682003.1:n.809-12_809-8del (BSCL2)
ENST00000682223.1:c.766-12_766-8del (BSCL2)	ENSP00000508140.1:n.766-12_766-8del
ENST00000682262.1:c.631-1064_631-1060del (BSCL2)	ENSP00000507103.1:n.631-1064_631-1060del
ENST00000682555.1:c.684-12_684-8del (BSCL2)	ENSP00000507814.1:n.684-12_684-8del
ENST00000682644.1:n.1158-12_1158-8del (BSCL2)
ENST00000682794.1:n.1076-12_1076-8del (BSCL2)
ENST00000683025.1:c.*413-12_*413-8del (BSCL2)	ENSP00000507028.1:n.*413-12_*413-8del
ENST00000683296.1:c.766-12_766-8del (BSCL2)	ENSP00000507725.1:n.766-12_766-8del
ENST00000683368.1:n.957-12_957-8del (BSCL2)
ENST00000683494.1:n.1335_1339del (BSCL2)
ENST00000683846.1:n.1106-12_1106-8del (BSCL2)
ENST00000683892.1:n.1268-12_1268-8del (BSCL2)
ENST00000684067.1:c.766-12_766-8del (BSCL2)	ENSP00000506799.1:n.766-12_766-8del
ENST00000684115.1:n.1335_1339del (BSCL2)
ENST00000684258.1:n.1194-12_1194-8del (BSCL2)
ENST00000684285.1:c.*273-12_*273-8del (BSCL2)	ENSP00000507669.1:n.*273-12_*273-8del
ENST00000684475.1:c.631-12_631-8del (BSCL2)	ENSP00000507429.1:n.631-12_631-8del
ENST00000684609.1:n.1158-12_1158-8del (BSCL2)
ENST00000684720.1:n.1158-12_1158-8del (BSCL2)
ENST00000360796.10:c.766-12_766-8del (BSCL2) MANE Select	ENSP00000354032.5:n.766-12_766-8del
ENST00000679883.1:c.766-12_766-8del (BSCL2)	ENSP00000505838.1:n.766-12_766-8del
ENST00000278893.11:c.574-12_574-8del (BSCL2)	ENSP00000278893.7:n.574-12_574-8del
ENST00000301781.10:c.711-12_711-8del (BSCL2)	ENSP00000301781.5:n.711-12_711-8del
ENST00000360796.9:c.766-12_766-8del (BSCL2)	ENSP00000354032.5:n.766-12_766-8del
ENST00000403098.6:c.88-12_88-8del (BSCL2)	ENSP00000384258.2:n.88-12_88-8del
ENST00000403550.5:c.574-12_574-8del (BSCL2)	ENSP00000385561.1:n.574-12_574-8del
ENST00000403734.2:c.*817-12_*817-8del (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*817-12_*817-8del
ENST00000405837.5:c.766-12_766-8del (BSCL2)	ENSP00000385332.1:n.766-12_766-8del
ENST00000407022.7:c.574-12_574-8del (BSCL2)	ENSP00000384080.3:n.574-12_574-8del
ENST00000412351.1:n.364-12_364-8del (BSCL2)
ENST00000421906.5:c.574-12_574-8del (BSCL2)	ENSP00000413209.1:n.574-12_574-8del
ENST00000448568.6:c.574-12_574-8del (BSCL2)	ENSP00000413340.2:n.574-12_574-8del
ENST00000468505.5:n.136-12_136-8del (BSCL2)
ENST00000526426.1:n.290-12_290-8del (BSCL2)
ENST00000532115.5:n.145-12_145-8del (BSCL2)
NM_001122955.3:c.766-12_766-8del (BSCL2)	NP_001116427.1:n.766-12_766-8del
NM_001130702.2:c.574-12_574-8del (BSCL2)	NP_001124174.2:n.574-12_574-8del
NM_032667.6:c.574-12_574-8del (BSCL2)	NP_116056.3:n.574-12_574-8del
NR_037946.1:n.3286-12_3286-8del (HNRNPUL2-BSCL2)
NR_037948.1:n.1368-12_1368-8del (BSCL2)
NR_037949.1:n.1368-12_1368-8del (BSCL2)
NM_001122955.4:c.766-12_766-8del (BSCL2) MANE Select	NP_001116427.1:n.766-12_766-8del
NM_001386027.1:c.766-12_766-8del (BSCL2)	NP_001372956.1:n.766-12_766-8del
NM_001386028.1:c.766-12_766-8del (BSCL2)	NP_001372957.1:n.766-12_766-8del