Canonical Allele Identifier: CA5259345
Gene: GOLGA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128267227_128267230del , CM000671.2:g.128267227_128267230del GRCh38
NC_000009.11:g.131029506_131029509del , CM000671.1:g.131029506_131029509del GRCh37
NC_000009.10:g.130069327_130069330del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000450617.8:c.519_522del ENSP00000409271.4:p.Lys173AsnfsTer6
ENST00000421699.8:c.534_537del ENSP00000416097.4:p.Lys178AsnfsTer6
ENST00000450617.7:c.207_210del ENSP00000409271.3:p.Lys69AsnfsTer6
ENST00000458730.3:c.615_618del ENSP00000411598.3:p.Lys205AsnfsTer6
ENST00000611957.5:c.615_618del MANE Select ENSP00000478799.2:p.Lys205AsnfsTer6
ENST00000685377.1:n.1445_1448del
ENST00000685900.1:c.222_225del ENSP00000508962.1:p.Lys74AsnfsTer6
ENST00000686291.1:c.561+237_561+240del ENSP00000510145.1:n.561+237_561+240del
ENST00000687179.1:c.561+237_561+240del ENSP00000510790.1:n.561+237_561+240del
ENST00000693047.1:c.*115_*118del ENSP00000510159.1:n.*115_*118del
ENST00000693185.1:c.480+237_480+240del ENSP00000508841.1:n.480+237_480+240del
ENST00000421699.7:c.498_501del ENSP00000416097.3:p.Lys166AsnfsTer6
ENST00000450617.6:c.579_582del ENSP00000409271.2:p.Lys193AsnfsTer6
ENST00000421699.6:c.534_537del ENSP00000416097.2:p.Lys178AsnfsTer6
ENST00000450617.5:c.615_618del ENSP00000409271.1:p.Lys205AsnfsTer6
ENST00000458730.2:c.354+237_354+240del ENSP00000411598.2:n.354+237_354+240del
ENST00000609374.5:c.498_501del ENSP00000476265.1:p.Lys166AsnfsTer6
ENST00000610329.4:c.7+6675_7+6678del ENSP00000481685.1:n.7+6675_7+6678del
ENST00000611957.4:c.534_537del ENSP00000478799.1:p.Lys178AsnfsTer6
NM_004486.4:c.534_537del NP_004477.3:p.Lys178AsnfsTer6
XM_005251930.1:c.615_618del XP_005251987.1:p.Lys205AsnfsTer6
XM_005251931.1:c.561+237_561+240del XP_005251988.1:n.561+237_561+240del
XM_005251932.1:c.480+237_480+240del XP_005251989.1:n.480+237_480+240del
NM_001366244.1:c.579_582del NP_001353173.1:p.Lys193AsnfsTer6
NM_001366246.1:c.525+237_525+240del NP_001353175.1:n.525+237_525+240del
NM_004486.5:c.498_501del NP_004477.4:p.Lys166AsnfsTer6
NM_001366244.2:c.615_618del MANE Select NP_001353173.2:p.Lys205AsnfsTer6
NM_001366246.2:c.561+237_561+240del NP_001353175.2:n.561+237_561+240del
NM_001389695.2:c.600_603del NP_001376624.2:p.Lys200AsnfsTer6
NM_001389696.2:c.615_618del NP_001376625.2:p.Lys205AsnfsTer6
NM_001389697.2:c.561+237_561+240del NP_001376626.2:n.561+237_561+240del
NM_001389698.2:c.561+237_561+240del NP_001376627.2:n.561+237_561+240del
NM_001389699.2:c.561+237_561+240del NP_001376628.2:n.561+237_561+240del
NM_001389700.2:c.534_537del NP_001376629.2:p.Lys178AsnfsTer6
NM_001389701.2:c.480+237_480+240del NP_001376630.2:n.480+237_480+240del
NM_001389702.2:c.429_432del NP_001376631.2:p.Lys143AsnfsTer6
NM_001389703.2:c.480+237_480+240del NP_001376632.2:n.480+237_480+240del
NM_001389704.2:c.208-896_208-893del NP_001376633.2:n.208-896_208-893del
NM_001389705.2:c.208-1201_208-1198del NP_001376634.2:n.208-1201_208-1198del
NM_004486.6:c.534_537del NP_004477.5:p.Lys178AsnfsTer6