Canonical Allele Identifier: CA16620717
Gene: PIGN HGNC NCBI

Linked Data

ClinVar Variation Id: 419349
ClinVar RCV Id: RCV000481670
dbSNP Id: rs1064793808

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.62114605_62114607delinsCT , CM000680.2:g.62114605_62114607delinsCT GRCh38
NC_000018.9:g.59781838_59781840delinsCT , CM000680.1:g.59781838_59781840delinsCT GRCh37
NC_000018.8:g.57932818_57932820delinsCT NCBI36
NG_033144.1:g.77450_77452delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000357637.10:c.1205_1207delinsAG ENSP00000350263.4:p.Leu402Ter
ENST00000588571.6:c.1205_1207delinsAG ENSP00000466035.2:p.Leu402Ter
ENST00000589339.6:c.1205_1207delinsAG ENSP00000465506.2:p.Leu402Ter
ENST00000638167.1:c.1173-7522_1173-7520delinsAG ENSP00000491549.1:n.1173-7522_1173-7520de...
ENST00000638183.1:c.1205_1207delinsAG ENSP00000491013.1:p.Leu402Ter
ENST00000638329.1:c.1205_1207delinsAG ENSP00000492804.1:p.Leu402Ter
ENST00000638369.1:c.1205_1207delinsAG ENSP00000491811.1:p.Leu402Ter
ENST00000638424.1:c.1205_1207delinsAG ENSP00000491963.1:p.Leu402Ter
ENST00000638435.1:c.974_976delinsAG ENSP00000491850.1:p.Leu325Ter
ENST00000638858.1:n.1184_1186delinsAG
ENST00000638904.1:c.1205_1207delinsAG ENSP00000491318.1:p.Leu402Ter
ENST00000638936.1:c.1205_1207delinsAG ENSP00000492592.1:p.Leu402Ter
ENST00000638977.1:c.1145_1147delinsAG ENSP00000491010.1:p.Leu382Ter
ENST00000639174.1:c.1205_1207delinsAG ENSP00000492783.1:p.Leu402Ter
ENST00000639214.1:n.1446_1448delinsAG
ENST00000639342.1:c.953_955delinsAG ENSP00000491022.1:p.Leu318Ter
ENST00000639600.1:c.675_677delinsAG
ENST00000639681.1:c.*565_*567delinsAG ENSP00000491929.1:n.*565_*567delinsAG
ENST00000639758.1:c.1145_1147delinsAG ENSP00000491475.1:p.Leu382Ter
ENST00000639902.1:c.1205_1207delinsAG ENSP00000490965.1:p.Leu402Ter
ENST00000639912.1:c.1145_1147delinsAG ENSP00000490970.1:p.Leu382Ter
ENST00000640050.1:c.1205_1207delinsAG ENSP00000492051.1:p.Leu402Ter
ENST00000640145.1:c.1205_1207delinsAG ENSP00000491525.1:p.Leu402Ter
ENST00000640170.1:c.*565_*567delinsAG ENSP00000491270.1:n.*565_*567delinsAG
ENST00000640252.2:c.1205_1207delinsAG MANE Select ENSP00000492233.1:p.Leu402Ter
ENST00000640268.1:c.1205_1207delinsAG ENSP00000491111.1:p.Leu402Ter
ENST00000640540.1:c.1205_1207delinsAG ENSP00000491620.1:p.Leu402Ter
ENST00000640593.1:c.*533-7522_*533-7520delinsAG ENSP00000492017.1:n.*533-7522_*533-7520de...
ENST00000640682.1:c.20_22delinsAG ENSP00000491415.1:p.Leu7Ter
ENST00000640876.1:c.1205_1207delinsAG ENSP00000491628.1:p.Leu402Ter
ENST00000357637.9:c.1205_1207delinsAG ENSP00000350263.4:p.Leu402Ter
ENST00000400334.7:c.1205_1207delinsAG ENSP00000383188.2:p.Leu402Ter
ENST00000586566.1:c.45-7522_45-7520delinsAG ENSP00000467410.1:n.45-7522_45-7520delins...
NM_012327.5:c.1205_1207delinsAG NP_036459.1:p.Leu402Ter
NM_176787.4:c.1205_1207delinsAG NP_789744.1:p.Leu402Ter
XM_011525889.1:c.1205_1207delinsAG XP_011524191.1:p.Leu402Ter
XM_011525890.1:c.1205_1207delinsAG XP_011524192.1:p.Leu402Ter
XM_011525891.1:c.1205_1207delinsAG XP_011524193.1:p.Leu402Ter
XM_011525892.1:c.1205_1207delinsAG XP_011524194.1:p.Leu402Ter
XM_011525893.1:c.1205_1207delinsAG XP_011524195.1:p.Leu402Ter
XM_011525894.1:c.1205_1207delinsAG XP_011524196.1:p.Leu402Ter
XM_011525895.1:c.1205_1207delinsAG XP_011524197.1:p.Leu402Ter
XM_011525896.1:c.1205_1207delinsAG XP_011524198.1:p.Leu402Ter
XM_011525897.1:c.1145_1147delinsAG XP_011524199.1:p.Leu382Ter
XM_011525898.1:c.1205_1207delinsAG XP_011524200.1:p.Leu402Ter
XM_017025685.1:c.1173-7522_1173-7520delinsAG XP_016881174.1:n.1173-7522_1173-7520delin...
XM_017025686.1:c.1173-7522_1173-7520delinsAG XP_016881175.1:n.1173-7522_1173-7520delin...
NM_176787.5:c.1205_1207delinsAG MANE Select NP_789744.1:p.Leu402Ter
NM_012327.6:c.1205_1207delinsAG NP_036459.1:p.Leu402Ter