Canonical Allele Identifier: CA920319565
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

dbSNP Id: rs1568955015

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45511096_45511097insCC , CM000683.2:g.45511096_45511097insCC GRCh38
NC_000021.8:g.46931010_46931011insCC , CM000683.1:g.46931010_46931011insCC GRCh37
NC_000021.7:g.45755438_45755439insCC NCBI36
NG_011903.1:g.110905_110906insCC
NG_028278.2:g.57048_57049insGG

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.4234-15_4234-14insCC (COL18A1) ENSP00000347665.5:n.4234-15_4234-14insCC
ENST00000651438.1:c.3694-15_3694-14insCC (COL18A1) MANE Select ENSP00000498485.1:n.3694-15_3694-14insCC
ENST00000342220.9:c.1738-15_1738-14insCC (COL18A1) ENSP00000339118.5:n.1738-15_1738-14insCC
ENST00000355480.9:c.4234-15_4234-14insCC (COL18A1) ENSP00000347665.5:n.4234-15_4234-14insCC
ENST00000359759.8:c.4939-15_4939-14insCC (COL18A1) ENSP00000352798.4:n.4939-15_4939-14insCC
ENST00000400337.6:c.3694-15_3694-14insCC (COL18A1) ENSP00000383191.2:n.3694-15_3694-14insCC
ENST00000417954.5:c.498-12484_498-12483insGG (SLC19A1)
ENST00000423214.1:c.648-15_648-14insCC (COL18A1)
ENST00000473212.1:n.2020-15_2020-14insCC (COL18A1)
ENST00000567670.5:c.1294-12484_1294-12483insGG (SLC19A1) ENSP00000457278.1:n.1294-12484_1294-12483...
NM_030582.3:c.4225-15_4225-14insCC (COL18A1) NP_085059.2:n.4225-15_4225-14insCC
NM_130444.2:c.4930-15_4930-14insCC (COL18A1) NP_569711.2:n.4930-15_4930-14insCC
NM_130445.3:c.3685-15_3685-14insCC (COL18A1) NP_569712.2:n.3685-15_3685-14insCC
XM_011529707.1:c.1585-8127_1585-8126insGG (SLC19A1) XP_011528009.1:n.1585-8127_1585-8126insGG...
XM_017028445.2:c.1585-8127_1585-8126insGG (SLC19A1) XP_016883934.1:n.1585-8127_1585-8126insGG...
NM_030582.4:c.4225-15_4225-14insCC (COL18A1) NP_085059.2:n.4225-15_4225-14insCC
NM_130444.3:c.4930-15_4930-14insCC (COL18A1) NP_569711.2:n.4930-15_4930-14insCC
NM_130445.4:c.3685-15_3685-14insCC (COL18A1) NP_569712.2:n.3685-15_3685-14insCC
NM_001379500.1:c.3694-15_3694-14insCC (COL18A1) MANE Select NP_001366429.1:n.3694-15_3694-14insCC