Canonical Allele Identifier: CA749788282

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs750988300
• MyVariant Identifiers: chr21:g.46925152_46925153insCCCCCCGGCCCCCCAGGG (hg19) ; chr21:g.45505238_45505239insCCCCCCGGCCCCCCAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505243_45505244insCGGCCCCCCAGGGCCCCC , CM000683.2:g.45505243_45505244insCGGCCCCCCAGGGCCCCC	GRCh38
NC_000021.8:g.46925157_46925158insCGGCCCCCCAGGGCCCCC , CM000683.1:g.46925157_46925158insCGGCCCCCCAGGGCCCCC	GRCh37
NC_000021.7:g.45749585_45749586insCGGCCCCCCAGGGCCCCC	NCBI36
NG_011903.1:g.105052_105053insCGGCCCCCCAGGGCCCCC
NG_028278.2:g.62905_62906insCCCTGGGGGGCCGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3518_3519insCGGCCCCCCAGGGCCCCC (COL18A1)	ENSP00000347665.5:p.Pro1173_Gly1174insGlyProProGlyProPro
ENST00000651438.1:c.2978_2979insCGGCCCCCCAGGGCCCCC (COL18A1) MANE Select	ENSP00000498485.1:p.Pro993_Gly994insGlyProProGlyProPro
ENST00000342220.9:c.1019_1020insCGGCCCCCCAGGGCCCCC (COL18A1)	ENSP00000339118.5:p.Pro340_Gly341insGlyProProGlyProPro
ENST00000355480.9:c.3518_3519insCGGCCCCCCAGGGCCCCC (COL18A1)	ENSP00000347665.5:p.Pro1173_Gly1174insGlyProProGlyProPro
ENST00000359759.8:c.4223_4224insCGGCCCCCCAGGGCCCCC (COL18A1)	ENSP00000352798.4:p.Pro1408_Gly1409insGlyProProGlyProPro
ENST00000400337.6:c.2978_2979insCGGCCCCCCAGGGCCCCC (COL18A1)	ENSP00000383191.2:p.Pro993_Gly994insGlyProProGlyProPro
ENST00000417954.5:c.498-6627_498-6626insCCCTGGGGGGCCGGGGGG (SLC19A1)
ENST00000567670.5:c.1294-6627_1294-6626insCCCTGGGGGGCCGGGGGG (SLC19A1)	ENSP00000457278.1:n.1294-6627_1294-6626insCCCTGGGGGGCCGGGGGG
NM_030582.3:c.3509_3510insCGGCCCCCCAGGGCCCCC (COL18A1)	NP_085059.2:p.Pro1170_Gly1171insGlyProProGlyProPro
NM_130444.2:c.4214_4215insCGGCCCCCCAGGGCCCCC (COL18A1)	NP_569711.2:p.Pro1405_Gly1406insGlyProProGlyProPro
NM_130445.3:c.2969_2970insCGGCCCCCCAGGGCCCCC (COL18A1)	NP_569712.2:p.Pro990_Gly991insGlyProProGlyProPro
XM_011529707.1:c.1585-2270_1585-2269insCCCTGGGGGGCCGGGGGG (SLC19A1)	XP_011528009.1:n.1585-2270_1585-2269insCCCTGGGGGGCCGGGGGG
XM_017028445.2:c.1585-2270_1585-2269insCCCTGGGGGGCCGGGGGG (SLC19A1)	XP_016883934.1:n.1585-2270_1585-2269insCCCTGGGGGGCCGGGGGG
NM_030582.4:c.3509_3510insCGGCCCCCCAGGGCCCCC (COL18A1)	NP_085059.2:p.Pro1170_Gly1171insGlyProProGlyProPro
NM_130444.3:c.4214_4215insCGGCCCCCCAGGGCCCCC (COL18A1)	NP_569711.2:p.Pro1405_Gly1406insGlyProProGlyProPro
NM_130445.4:c.2969_2970insCGGCCCCCCAGGGCCCCC (COL18A1)	NP_569712.2:p.Pro990_Gly991insGlyProProGlyProPro
NM_001379500.1:c.2978_2979insCGGCCCCCCAGGGCCCCC (COL18A1) MANE Select	NP_001366429.1:p.Pro993_Gly994insGlyProProGlyProPro