Canonical Allele Identifier: CA10603556
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280186
ClinVar RCV Id: RCV000311760
dbSNP Id: rs886041437

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45505244_45505245delinsC , CM000683.2:g.45505244_45505245delinsC GRCh38
NC_000021.8:g.46925158_46925159delinsC , CM000683.1:g.46925158_46925159delinsC GRCh37
NC_000021.7:g.45749586_45749587delinsC NCBI36
NG_011903.1:g.105053_105054delinsC
NG_028278.2:g.62899_62900delinsG

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.3519_3520delinsC (COL18A1) ENSP00000347665.5:p.Pro1176LeufsTer?
ENST00000651438.1:c.2979_2980delinsC (COL18A1) MANE Select ENSP00000498485.1:p.Pro996LeufsTer?
ENST00000342220.9:n.1020_1021delinsC (COL18A1) ENSP00000339118.5:p.Pro343LeufsTer?
ENST00000355480.9:c.3519_3520delinsC (COL18A1) ENSP00000347665.5:p.Pro1176LeufsTer?
ENST00000359759.8:n.4224_4225delinsC (COL18A1) ENSP00000352798.4:p.Pro1411LeufsTer?
ENST00000400337.6:c.2979_2980delinsC (COL18A1) ENSP00000383191.2:p.Pro996LeufsTer?
ENST00000417954.5:n.498-6633_498-6632delinsG (SLC19A1)
ENST00000567670.5:c.1294-6633_1294-6632delinsG (SLC19A1) ENSP00000457278.1:n.1294-6633_1294-6632de...
NM_030582.3:c.3510_3511delinsC (COL18A1) NP_085059.2:p.Pro1173LeufsTer?
NM_130444.2:c.4215_4216delinsC (COL18A1) NP_569711.2:p.Pro1408LeufsTer?
NM_130445.3:c.2970_2971delinsC (COL18A1) NP_569712.2:p.Pro993LeufsTer?
XM_011529707.1:c.1585-2276_1585-2275delinsG (SLC19A1) XP_011528009.1:n.1585-2276_1585-2275delin...
XM_017028445.2:c.1585-2276_1585-2275delinsG (SLC19A1) XP_016883934.1:n.1585-2276_1585-2275delin...
NM_030582.4:c.3510_3511delinsC (COL18A1) NP_085059.2:p.Pro1173LeufsTer?
NM_130444.3:c.4215_4216delinsC (COL18A1) NP_569711.2:p.Pro1408LeufsTer?
NM_130445.4:c.2970_2971delinsC (COL18A1) NP_569712.2:p.Pro993LeufsTer?
NM_001379500.1:c.2979_2980delinsC (COL18A1) MANE Select NP_001366429.1:p.Pro996LeufsTer?