Canonical Allele Identifier: CA1846328343

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36219854_36219861delinsTGCCTCCC , CM000671.2:g.36219854_36219861delinsTGCCTCCC GRCh38
NC_000009.11:g.36219851_36219858delinsTGCCTCCC , CM000671.1:g.36219851_36219858delinsTGCCTCCC GRCh37
NC_000009.10:g.36209851_36209858delinsTGCCTCCC NCBI36
NG_008246.1:g.62184_62191delinsGGGAGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.1886_1893delinsGGGAGGCA (GNE) MANE Plus Clinical ENSP00000379839.3:p.Arg629=
ENST00000543356.7:c.1616_1623delinsGGGAGGCA (GNE) ENSP00000437765.3:p.Arg539=
ENST00000642385.2:c.1793_1800delinsGGGAGGCA (GNE) MANE Select ENSP00000494141.2:p.Arg598=
ENST00000377902.5:c.1793_1800delinsGGGAGGCA (GNE) ENSP00000367134.4:p.Arg598=
ENST00000396594.7:c.1886_1893delinsGGGAGGCA (GNE) ENSP00000379839.3:p.Arg629=
ENST00000447283.6:c.1571_1578delinsGGGAGGCA (GNE) ENSP00000414760.2:p.Arg524=
ENST00000464497.5:c.485+15675_485+15682delinsTGCCTCCC (CLTA) ENSP00000419158.1:n.485+15675_485+15682delinsTGCCTCCC
ENST00000539208.5:c.1463_1470delinsGGGAGGCA (GNE) ENSP00000445117.1:p.Arg488=
ENST00000539815.5:c.1793_1800delinsGGGAGGCA (GNE) ENSP00000439155.1:p.Arg598=
ENST00000543356.6:c.1778_1785delinsGGGAGGCA (GNE) ENSP00000437765.2:p.Arg593=
NM_001128227.2:c.1886_1893delinsGGGAGGCA (GNE) NP_001121699.1:p.Arg629=
NM_001190383.1:c.1571_1578delinsGGGAGGCA (GNE) NP_001177312.1:p.Arg524=
NM_001190384.1:c.1463_1470delinsGGGAGGCA (GNE) NP_001177313.1:p.Arg488=
NM_001190388.1:c.1778_1785delinsGGGAGGCA (GNE) NP_001177317.1:p.Arg593=
NM_005476.5:c.1793_1800delinsGGGAGGCA (GNE) NP_005467.1:p.Arg598=
XM_005251334.3:c.1733_1740delinsGGGAGGCA (GNE) XP_005251391.1:p.Arg578=
NM_001190383.2:c.1571_1578delinsGGGAGGCA (GNE) NP_001177312.1:p.Arg524=
NM_001190384.2:c.1463_1470delinsGGGAGGCA (GNE) NP_001177313.1:p.Arg488=
NM_005476.6:c.1793_1800delinsGGGAGGCA (GNE) NP_005467.1:p.Arg598=
XM_005251334.4:c.1733_1740delinsGGGAGGCA (GNE) XP_005251391.1:p.Arg578=
XM_017014167.1:c.1793_1800delinsGGGAGGCA (GNE) XP_016869656.1:p.Arg598=
XM_017014168.1:c.1640_1647delinsGGGAGGCA (GNE) XP_016869657.1:p.Arg547=
NM_001128227.3:c.1886_1893delinsGGGAGGCA (GNE) MANE Plus Clinical NP_001121699.1:p.Arg629=
NM_001190383.3:c.1571_1578delinsGGGAGGCA (GNE) NP_001177312.1:p.Arg524=
NM_001190384.3:c.1463_1470delinsGGGAGGCA (GNE) NP_001177313.1:p.Arg488=
NM_001190388.2:c.1616_1623delinsGGGAGGCA (GNE) NP_001177317.2:p.Arg539=
NM_001374797.1:c.1640_1647delinsGGGAGGCA (GNE) NP_001361726.1:p.Arg547=
NM_001374798.1:c.1616_1623delinsGGGAGGCA (GNE) NP_001361727.1:p.Arg539=
NM_005476.7:c.1793_1800delinsGGGAGGCA (GNE) MANE Select NP_005467.1:p.Arg598=