Canonical Allele Identifier: CA2737719436

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs2146081641

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505243_45505244insCGGCCACCC , CM000683.2:g.45505243_45505244insCGGCCACCC	GRCh38
NC_000021.8:g.46925157_46925158insCGGCCACCC , CM000683.1:g.46925157_46925158insCGGCCACCC	GRCh37
NC_000021.7:g.45749585_45749586insCGGCCACCC	NCBI36
NG_011903.1:g.105052_105053insCGGCCACCC
NG_028278.2:g.62903_62904insTGGCCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3518_3519insCGGCCACCC (COL18A1)	ENSP00000347665.5:p.Pro1173_Gly1174insGlyHisPro
ENST00000651438.1:c.2978_2979insCGGCCACCC (COL18A1) MANE Select	ENSP00000498485.1:p.Pro993_Gly994insGlyHisPro
ENST00000342220.9:c.1019_1020insCGGCCACCC (COL18A1)	ENSP00000339118.5:p.Pro340_Gly341insGlyHisPro
ENST00000355480.9:c.3518_3519insCGGCCACCC (COL18A1)	ENSP00000347665.5:p.Pro1173_Gly1174insGlyHisPro
ENST00000359759.8:c.4223_4224insCGGCCACCC (COL18A1)	ENSP00000352798.4:p.Pro1408_Gly1409insGlyHisPro
ENST00000400337.6:c.2978_2979insCGGCCACCC (COL18A1)	ENSP00000383191.2:p.Pro993_Gly994insGlyHisPro
ENST00000417954.5:c.498-6629_498-6628insTGGCCGGGG (SLC19A1)
ENST00000567670.5:c.1294-6629_1294-6628insTGGCCGGGG (SLC19A1)	ENSP00000457278.1:n.1294-6629_1294-6628insTGGCCGGGG
NM_030582.3:c.3509_3510insCGGCCACCC (COL18A1)	NP_085059.2:p.Pro1170_Gly1171insGlyHisPro
NM_130444.2:c.4214_4215insCGGCCACCC (COL18A1)	NP_569711.2:p.Pro1405_Gly1406insGlyHisPro
NM_130445.3:c.2969_2970insCGGCCACCC (COL18A1)	NP_569712.2:p.Pro990_Gly991insGlyHisPro
XM_011529707.1:c.1585-2272_1585-2271insTGGCCGGGG (SLC19A1)	XP_011528009.1:n.1585-2272_1585-2271insTGGCCGGGG
XM_017028445.2:c.1585-2272_1585-2271insTGGCCGGGG (SLC19A1)	XP_016883934.1:n.1585-2272_1585-2271insTGGCCGGGG
NM_030582.4:c.3509_3510insCGGCCACCC (COL18A1)	NP_085059.2:p.Pro1170_Gly1171insGlyHisPro
NM_130444.3:c.4214_4215insCGGCCACCC (COL18A1)	NP_569711.2:p.Pro1405_Gly1406insGlyHisPro
NM_130445.4:c.2969_2970insCGGCCACCC (COL18A1)	NP_569712.2:p.Pro990_Gly991insGlyHisPro
NM_001379500.1:c.2978_2979insCGGCCACCC (COL18A1) MANE Select	NP_001366429.1:p.Pro993_Gly994insGlyHisPro