Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.156778973_156778988del , CM000668.2:g.156778973_156778988del	GRCh38
NC_000006.11:g.157100107_157100122del , CM000668.1:g.157100107_157100122del	GRCh37
NC_000006.10:g.157141799_157141814del	NCBI36
NG_032093.1:g.6044_6059del
NG_032093.2:g.6044_6059del
NG_066624.1:g.7948_7963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.1293_1308del	ENSP00000055163.8:p.Gly434AlafsTer13
ENST00000414678.8:c.1293_1308del	ENSP00000412835.3:p.Gly434AlafsTer13
ENST00000637015.2:c.1293_1308del	ENSP00000489729.2:p.Gly434AlafsTer13
ENST00000346085.10:c.1293_1308del	ENSP00000344546.5:p.Gly434AlafsTer13
ENST00000350026.10:c.1044_1059del	ENSP00000055163.7:p.Gly351AlafsTer13
ENST00000636930.2:c.1293_1308del MANE Select	ENSP00000490491.2:p.Gly434AlafsTer13
ENST00000647938.1:c.1044_1059del	ENSP00000498155.1:p.Gly351AlafsTer13
ENST00000674298.1:c.1033_1048del
ENST00000346085.9:c.1044_1059del	ENSP00000344546.4:p.Gly351AlafsTer13
ENST00000350026.9:c.1044_1059del	ENSP00000055163.7:p.Gly351AlafsTer13
NM_017519.2:c.1044_1059del	NP_059989.2:p.Gly351AlafsTer13
NM_020732.3:c.1044_1059del	NP_065783.3:p.Gly351AlafsTer13
XM_005267069.3:c.1044_1059del	XP_005267126.2:p.Gly351AlafsTer13
XM_011535984.1:c.-88_-73del	XP_011534286.1:n.-88_-73del
NM_001346813.1:c.1044_1059del	NP_001333742.1:p.Gly351AlafsTer13
XM_011535984.2:c.1044_1059del	XP_011534286.2:p.Gly351AlafsTer13
XM_017011103.2:c.1044_1059del	XP_016866592.1:p.Gly351AlafsTer13
XM_017011104.1:c.1044_1059del	XP_016866593.1:p.Gly351AlafsTer13
XM_017011105.2:c.1044_1059del	XP_016866594.1:p.Gly351AlafsTer13
XM_017011106.2:c.1044_1059del	XP_016866595.1:p.Gly351AlafsTer13
XM_017011107.2:c.1044_1059del	XP_016866596.1:p.Gly351AlafsTer13
XR_002956289.1:n.1127_1142del
NM_001371656.1:c.1293_1308del	NP_001358585.1:p.Gly434AlafsTer13
NM_001374820.1:c.1293_1308del	NP_001361749.1:p.Gly434AlafsTer13
NM_001374828.1:c.1293_1308del MANE Select	NP_001361757.1:p.Gly434AlafsTer13
NM_017519.3:c.1293_1308del	NP_059989.3:p.Gly434AlafsTer13