Canonical Allele Identifier: CA2792512331

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490263_67490264del , CM000673.2:g.67490263_67490264del GRCh38
NC_000011.9:g.67257734_67257735del , CM000673.1:g.67257734_67257735del GRCh37
NC_000011.8:g.67014310_67014311del NCBI36
NG_008969.1:g.12230_12231del , LRG_460:g.12230_12231del

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.622+49_622+50del (AIP)
ENST00000528641.7:c.456+49_456+50del (AIP) ENSP00000434982.3:n.456+49_456+50del
ENST00000529797.2:n.1157+49_1157+50del (AIP)
ENST00000682324.1:c.469-734_469-733del (AIP) ENSP00000508017.1:n.469-734_469-733del
ENST00000682659.1:c.276+49_276+50del (AIP) ENSP00000507351.1:n.276+49_276+50del
ENST00000682699.1:c.645+49_645+50del (AIP) ENSP00000507935.1:n.645+49_645+50del
ENST00000683237.1:c.645+49_645+50del (AIP) ENSP00000507343.1:n.645+49_645+50del
ENST00000683856.1:c.468+49_468+50del (AIP) ENSP00000507979.1:n.468+49_468+50del
ENST00000684006.1:c.645+49_645+50del (AIP) ENSP00000507269.1:n.645+49_645+50del
ENST00000684657.1:c.465+49_465+50del (AIP) ENSP00000507961.1:n.465+49_465+50del
ENST00000279146.8:c.645+49_645+50del (AIP) MANE Select ENSP00000279146.3:n.645+49_645+50del
ENST00000279146.7:c.645+49_645+50del (AIP) ENSP00000279146.3:n.645+49_645+50del
ENST00000525341.1:c.297+49_297+50del (AIP) ENSP00000476993.1:n.297+49_297+50del
ENST00000528641.6:c.456+49_456+50del (AIP) ENSP00000434982.2:n.456+49_456+50del
NM_001302959.1:c.468+49_468+50del (AIP) NP_001289888.1:n.468+49_468+50del
NM_001302960.1:c.645+49_645+50del (AIP) NP_001289889.1:n.645+49_645+50del
NM_003977.3:c.645+49_645+50del (AIP) NP_003968.3:n.645+49_645+50del
NR_106810.1:n.19_20del (MIR6752)
XM_024448761.1:c.645+49_645+50del (AIP) XP_024304529.1:n.645+49_645+50del
NM_003977.4:c.645+49_645+50del (AIP) MANE Select NP_003968.3:n.645+49_645+50del
NM_001302960.2:c.645+49_645+50del (AIP) NP_001289889.1:n.645+49_645+50del
NM_001302959.2:c.468+49_468+50del (AIP) NP_001289888.1:n.468+49_468+50del