Canonical Allele Identifier: CA43356174

Gene: GEN1 SMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17778163_17778164del , CM000664.2:g.17778163_17778164del	GRCh38
NC_000002.11:g.17959430_17959431del , CM000664.1:g.17959430_17959431del	GRCh37
NC_000002.10:g.17822911_17822912del	NCBI36
NG_051292.1:g.29477_29478del

Transcript Alleles

HGVS	Amino-acid Change
NM_001130009.3:c.1264+100_1264+101del (GEN1) MANE Select	NP_001123481.3:n.1264+100_1264+101del
ENST00000381254.7:c.1264+100_1264+101del (GEN1) MANE Select	ENSP00000370653.2:n.1264+100_1264+101del
NM_001130009.1:c.1264+100_1264+101del (GEN1)	NP_001123481.1:n.1264+100_1264+101del
NM_001130009.2:c.1264+100_1264+101del (GEN1)	NP_001123481.2:n.1264+100_1264+101del
NM_182625.3:c.1264+100_1264+101del (GEN1)	NP_872431.3:n.1264+100_1264+101del
NM_182625.4:c.1264+100_1264+101del (GEN1)	NP_872431.4:n.1264+100_1264+101del
NM_182625.5:c.1264+100_1264+101del (GEN1)	NP_872431.5:n.1264+100_1264+101del
ENST00000317402.11:c.1264+100_1264+101del (GEN1)	ENSP00000318977.7:n.1264+100_1264+101del
ENST00000381254.6:c.1264+100_1264+101del (GEN1)	ENSP00000370653.2:n.1264+100_1264+101del
ENST00000402989.5:c.-6+9660_-6+9661del (SMC6)	ENSP00000384539.1:n.-6+9660_-6+9661del
ENST00000428868.1:c.-6+9660_-6+9661del (SMC6)	ENSP00000415352.1:n.-6+9660_-6+9661del
ENST00000528873.2:n.577+100_577+101del (GEN1)
XM_005262613.3:c.1264+100_1264+101del (GEN1)	XP_005262670.1:n.1264+100_1264+101del
XM_005262613.4:c.1264+100_1264+101del (GEN1)	XP_005262670.1:n.1264+100_1264+101del
XM_006712005.2:c.1264+100_1264+101del (GEN1)	XP_006712068.1:n.1264+100_1264+101del
XM_006712005.3:c.1264+100_1264+101del (GEN1)	XP_006712068.1:n.1264+100_1264+101del
XM_011532820.1:c.1264+100_1264+101del (GEN1)	XP_011531122.1:n.1264+100_1264+101del
XM_011532820.2:c.1264+100_1264+101del (GEN1)	XP_011531122.1:n.1264+100_1264+101del
XM_011532821.1:c.1264+100_1264+101del (GEN1)	XP_011531123.1:n.1264+100_1264+101del
XM_011532821.2:c.1264+100_1264+101del (GEN1)	XP_011531123.1:n.1264+100_1264+101del
XM_011532822.1:c.1264+100_1264+101del (GEN1)	XP_011531124.1:n.1264+100_1264+101del
XM_011532822.2:c.1264+100_1264+101del (GEN1)	XP_011531124.1:n.1264+100_1264+101del
XR_939762.1:n.1409-13508_1409-13507del
XR_939762.2:n.1418-13508_1418-13507del