Canonical Allele Identifier: CA2392190736
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45504511_45504513delinsCGG , CM000683.2:g.45504511_45504513delinsCGG GRCh38
NC_000021.8:g.46924425_46924427delinsCGG , CM000683.1:g.46924425_46924427delinsCGG GRCh37
NC_000021.7:g.45748853_45748855delinsCGG NCBI36
NG_028278.2:g.63631_63633delinsCCG

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.3363_3365delinsCGG (COL18A1) ENSP00000347665.5:p.Pro1121=
ENST00000651438.1:c.2823_2825delinsCGG (COL18A1) MANE Select ENSP00000498485.1:p.Pro941=
ENST00000342220.9:c.864_866delinsCGG (COL18A1) ENSP00000339118.5:p.Pro288=
ENST00000355480.9:c.3363_3365delinsCGG (COL18A1) ENSP00000347665.5:p.Pro1121=
ENST00000359759.8:c.4068_4070delinsCGG (COL18A1) ENSP00000352798.4:p.Pro1356=
ENST00000400337.6:c.2823_2825delinsCGG (COL18A1) ENSP00000383191.2:p.Pro941=
ENST00000417954.5:c.498-5901_498-5899delinsCCG (SLC19A1)
ENST00000567670.5:c.1294-5901_1294-5899delinsCCG (SLC19A1) ENSP00000457278.1:n.1294-5901_1294-5899de...
NM_030582.3:c.3363_3365delinsCGG (COL18A1) NP_085059.2:p.Pro1121=
NM_130444.2:c.4068_4070delinsCGG (COL18A1) NP_569711.2:p.Pro1356=
NM_130445.3:c.2823_2825delinsCGG (COL18A1) NP_569712.2:p.Pro941=
XM_011529707.1:c.1585-1544_1585-1542delinsCCG (SLC19A1) XP_011528009.1:n.1585-1544_1585-1542delin...
XM_017028445.2:c.1585-1544_1585-1542delinsCCG (SLC19A1) XP_016883934.1:n.1585-1544_1585-1542delin...
NM_030582.4:c.3363_3365delinsCGG (COL18A1) NP_085059.2:p.Pro1121=
NM_130444.3:c.4068_4070delinsCGG (COL18A1) NP_569711.2:p.Pro1356=
NM_130445.4:c.2823_2825delinsCGG (COL18A1) NP_569712.2:p.Pro941=
NM_001379500.1:c.2823_2825delinsCGG (COL18A1) MANE Select NP_001366429.1:p.Pro941=