Canonical Allele Identifier: CA2739291497

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692742_62692744del , CM000673.2:g.62692742_62692744del	GRCh38
NC_000011.9:g.62460214_62460216del , CM000673.1:g.62460214_62460216del	GRCh37
NC_000011.8:g.62216790_62216792del	NCBI36
NG_008461.1:g.21831_21833del
NG_033077.1:g.2156_2158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.876_878del (BSCL2)
ENST00000449636.6:c.192_194del (BSCL2)	ENSP00000405265.2:p.Ser65del
ENST00000524862.6:c.684_686del (BSCL2)	ENSP00000433888.2:p.Ser229del
ENST00000682003.1:n.809-271_809-269del (BSCL2)
ENST00000682223.1:c.684_686del (BSCL2)	ENSP00000508140.1:p.Ser229del
ENST00000682262.1:c.631-1323_631-1321del (BSCL2)	ENSP00000507103.1:n.631-1323_631-1321del
ENST00000682555.1:c.631-29_631-27del (BSCL2)	ENSP00000507814.1:n.631-29_631-27del
ENST00000682644.1:n.1076_1078del (BSCL2)
ENST00000682794.1:n.994_996del (BSCL2)
ENST00000683025.1:c.*331_*333del (BSCL2)	ENSP00000507028.1:n.*331_*333del
ENST00000683296.1:c.684_686del (BSCL2)	ENSP00000507725.1:p.Ser229del
ENST00000683368.1:n.875_877del (BSCL2)
ENST00000683494.1:n.1076_1078del (BSCL2)
ENST00000683846.1:n.1024_1026del (BSCL2)
ENST00000683892.1:n.1186_1188del (BSCL2)
ENST00000684067.1:c.684_686del (BSCL2)	ENSP00000506799.1:p.Ser229del
ENST00000684115.1:n.1076_1078del (BSCL2)
ENST00000684258.1:n.1112_1114del (BSCL2)
ENST00000684285.1:c.*191_*193del (BSCL2)	ENSP00000507669.1:n.*191_*193del
ENST00000684475.1:c.631-271_631-269del (BSCL2)	ENSP00000507429.1:n.631-271_631-269del
ENST00000684609.1:n.1076_1078del (BSCL2)
ENST00000684720.1:n.1076_1078del (BSCL2)
ENST00000360796.10:c.684_686del (BSCL2) MANE Select	ENSP00000354032.5:p.Ser229del
ENST00000679883.1:c.684_686del (BSCL2)	ENSP00000505838.1:p.Ser229del
ENST00000278893.11:c.492_494del (BSCL2)	ENSP00000278893.7:p.Ser165del
ENST00000301781.10:c.635-6_635-4del (BSCL2)	ENSP00000301781.5:n.635-6_635-4del
ENST00000360796.9:c.684_686del (BSCL2)	ENSP00000354032.5:p.Ser229del
ENST00000403098.6:c.6_8del (BSCL2)	ENSP00000384258.2:p.Ser3del
ENST00000403550.5:c.492_494del (BSCL2)	ENSP00000385561.1:p.Ser165del
ENST00000403734.2:c.*735_*737del (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*735_*737del
ENST00000405837.5:c.684_686del (BSCL2)	ENSP00000385332.1:p.Ser229del
ENST00000407022.7:c.492_494del (BSCL2)	ENSP00000384080.3:p.Ser165del
ENST00000412351.1:n.282_284del (BSCL2)
ENST00000421906.5:c.492_494del (BSCL2)	ENSP00000413209.1:p.Ser165del
ENST00000448568.6:c.492_494del (BSCL2)	ENSP00000413340.2:p.Ser165del
ENST00000468505.5:n.54_56del (BSCL2)
ENST00000526426.1:n.199_201del (BSCL2)
ENST00000531524.5:c.285_287del (BSCL2)	ENSP00000436026.1:p.Ser96del
ENST00000532115.5:n.145-271_145-269del (BSCL2)
NM_001122955.3:c.684_686del (BSCL2)	NP_001116427.1:p.Ser229del
NM_001130702.2:c.492_494del (BSCL2)	NP_001124174.2:p.Ser165del
NM_032667.6:c.492_494del (BSCL2)	NP_116056.3:p.Ser165del
NR_037946.1:n.3204_3206del (HNRNPUL2-BSCL2)
NR_037948.1:n.1286_1288del (BSCL2)
NR_037949.1:n.1286_1288del (BSCL2)
NM_001122955.4:c.684_686del (BSCL2) MANE Select	NP_001116427.1:p.Ser229del
NM_001386027.1:c.684_686del (BSCL2)	NP_001372956.1:p.Ser229del
NM_001386028.1:c.684_686del (BSCL2)	NP_001372957.1:p.Ser229del