Canonical Allele Identifier: CA2392191195
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45505143_45505145delinsGGA , CM000683.2:g.45505143_45505145delinsGGA GRCh38
NC_000021.8:g.46925057_46925059delinsGGA , CM000683.1:g.46925057_46925059delinsGGA GRCh37
NC_000021.7:g.45749485_45749487delinsGGA NCBI36
NG_011903.1:g.104952_104954delinsGGA
NG_028278.2:g.62999_63001delinsTCC

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.3418_3420delinsGGA (COL18A1) ENSP00000347665.5:p.Gly1140=
ENST00000651438.1:c.2878_2880delinsGGA (COL18A1) MANE Select ENSP00000498485.1:p.Gly960=
ENST00000342220.9:c.919_921delinsGGA (COL18A1) ENSP00000339118.5:p.Gly307=
ENST00000355480.9:c.3418_3420delinsGGA (COL18A1) ENSP00000347665.5:p.Gly1140=
ENST00000359759.8:c.4123_4125delinsGGA (COL18A1) ENSP00000352798.4:p.Gly1375=
ENST00000400337.6:c.2878_2880delinsGGA (COL18A1) ENSP00000383191.2:p.Gly960=
ENST00000417954.5:c.498-6533_498-6531delinsTCC (SLC19A1)
ENST00000567670.5:c.1294-6533_1294-6531delinsTCC (SLC19A1) ENSP00000457278.1:n.1294-6533_1294-6531de...
NM_030582.3:c.3409_3411delinsGGA (COL18A1) NP_085059.2:p.Gly1137=
NM_130444.2:c.4114_4116delinsGGA (COL18A1) NP_569711.2:p.Gly1372=
NM_130445.3:c.2869_2871delinsGGA (COL18A1) NP_569712.2:p.Gly957=
XM_011529707.1:c.1585-2176_1585-2174delinsTCC (SLC19A1) XP_011528009.1:n.1585-2176_1585-2174delin...
XM_017028445.2:c.1585-2176_1585-2174delinsTCC (SLC19A1) XP_016883934.1:n.1585-2176_1585-2174delin...
NM_030582.4:c.3409_3411delinsGGA (COL18A1) NP_085059.2:p.Gly1137=
NM_130444.3:c.4114_4116delinsGGA (COL18A1) NP_569711.2:p.Gly1372=
NM_130445.4:c.2869_2871delinsGGA (COL18A1) NP_569712.2:p.Gly957=
NM_001379500.1:c.2878_2880delinsGGA (COL18A1) MANE Select NP_001366429.1:p.Gly960=