Canonical Allele Identifier: CA2818080268

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505246_45505247insCCCCCCAGGGCCCCCAGG , CM000683.2:g.45505246_45505247insCCCCCCAGGGCCCCCAGG	GRCh38
NC_000021.8:g.46925160_46925161insCCCCCCAGGGCCCCCAGG , CM000683.1:g.46925160_46925161insCCCCCCAGGGCCCCCAGG	GRCh37
NC_000021.7:g.45749588_45749589insCCCCCCAGGGCCCCCAGG	NCBI36
NG_011903.1:g.105055_105056insCCCCCCAGGGCCCCCAGG
NG_028278.2:g.62905_62906insCCCTGGGGGGCCTGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3521_3522insCCCCCCAGGGCCCCCAGG (COL18A1)	ENSP00000347665.5:p.Gly1174_Pro1175insProProGlyProProGly
ENST00000651438.1:c.2981_2982insCCCCCCAGGGCCCCCAGG (COL18A1) MANE Select	ENSP00000498485.1:p.Gly994_Pro995insProProGlyProProGly
ENST00000342220.9:c.1022_1023insCCCCCCAGGGCCCCCAGG (COL18A1)	ENSP00000339118.5:p.Gly341_Pro342insProProGlyProProGly
ENST00000355480.9:c.3521_3522insCCCCCCAGGGCCCCCAGG (COL18A1)	ENSP00000347665.5:p.Gly1174_Pro1175insProProGlyProProGly
ENST00000359759.8:c.4226_4227insCCCCCCAGGGCCCCCAGG (COL18A1)	ENSP00000352798.4:p.Gly1409_Pro1410insProProGlyProProGly
ENST00000400337.6:c.2981_2982insCCCCCCAGGGCCCCCAGG (COL18A1)	ENSP00000383191.2:p.Gly994_Pro995insProProGlyProProGly
ENST00000417954.5:c.498-6627_498-6626insCCCTGGGGGGCCTGGGGG (SLC19A1)
ENST00000567670.5:c.1294-6627_1294-6626insCCCTGGGGGGCCTGGGGG (SLC19A1)	ENSP00000457278.1:n.1294-6627_1294-6626insCCCTGGGGGGCCTGGGGG
NM_030582.3:c.3512_3513insCCCCCCAGGGCCCCCAGG (COL18A1)	NP_085059.2:p.Gly1171_Pro1172insProProGlyProProGly
NM_130444.2:c.4217_4218insCCCCCCAGGGCCCCCAGG (COL18A1)	NP_569711.2:p.Gly1406_Pro1407insProProGlyProProGly
NM_130445.3:c.2972_2973insCCCCCCAGGGCCCCCAGG (COL18A1)	NP_569712.2:p.Gly991_Pro992insProProGlyProProGly
XM_011529707.1:c.1585-2270_1585-2269insCCCTGGGGGGCCTGGGGG (SLC19A1)	XP_011528009.1:n.1585-2270_1585-2269insCCCTGGGGGGCCTGGGGG
XM_017028445.2:c.1585-2270_1585-2269insCCCTGGGGGGCCTGGGGG (SLC19A1)	XP_016883934.1:n.1585-2270_1585-2269insCCCTGGGGGGCCTGGGGG
NM_030582.4:c.3512_3513insCCCCCCAGGGCCCCCAGG (COL18A1)	NP_085059.2:p.Gly1171_Pro1172insProProGlyProProGly
NM_130444.3:c.4217_4218insCCCCCCAGGGCCCCCAGG (COL18A1)	NP_569711.2:p.Gly1406_Pro1407insProProGlyProProGly
NM_130445.4:c.2972_2973insCCCCCCAGGGCCCCCAGG (COL18A1)	NP_569712.2:p.Gly991_Pro992insProProGlyProProGly
NM_001379500.1:c.2981_2982insCCCCCCAGGGCCCCCAGG (COL18A1) MANE Select	NP_001366429.1:p.Gly994_Pro995insProProGlyProProGly