Canonical Allele Identifier: CA2392191261

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs2037121222

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505240_45505241insTCCCGGCCCCCCAGGCCCCCCAGGCCC , CM000683.2:g.45505240_45505241insTCCCGGCCCCCCAGGCCCCCCAGGCCC	GRCh38
NC_000021.8:g.46925154_46925155insTCCCGGCCCCCCAGGCCCCCCAGGCCC , CM000683.1:g.46925154_46925155insTCCCGGCCCCCCAGGCCCCCCAGGCCC	GRCh37
NC_000021.7:g.45749582_45749583insTCCCGGCCCCCCAGGCCCCCCAGGCCC	NCBI36
NG_011903.1:g.105049_105050insTCCCGGCCCCCCAGGCCCCCCAGGCCC
NG_028278.2:g.62917_62918insTGGGGGGCCGGGAGGGCCTGGGGGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3515_3516insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	ENSP00000347665.5:p.Pro1172_Pro1173insProGlyProProGlyProProGl...
ENST00000651438.1:c.2975_2976insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1) MANE Select	ENSP00000498485.1:p.Pro992_Pro993insProGlyProProGlyProProGlyP...
ENST00000342220.9:c.1016_1017insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	ENSP00000339118.5:p.Pro339_Pro340insProGlyProProGlyProProGlyP...
ENST00000355480.9:c.3515_3516insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	ENSP00000347665.5:p.Pro1172_Pro1173insProGlyProProGlyProProGl...
ENST00000359759.8:c.4220_4221insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	ENSP00000352798.4:p.Pro1407_Pro1408insProGlyProProGlyProProGl...
ENST00000400337.6:c.2975_2976insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	ENSP00000383191.2:p.Pro992_Pro993insProGlyProProGlyProProGlyP...
ENST00000417954.5:c.498-6615_498-6614insTGGGGGGCCGGGAGGGCCTGGGGGGCC (SLC19A1)
ENST00000567670.5:c.1294-6615_1294-6614insTGGGGGGCCGGGAGGGCCTGGGGGGCC (SLC19A1)	ENSP00000457278.1:n.1294-6615_1294-6614insTGGGGGGCCGGGAGGGCCT...
NM_030582.3:c.3506_3507insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	NP_085059.2:p.Pro1169_Pro1170insProGlyProProGlyProProGlyPro
NM_130444.2:c.4211_4212insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	NP_569711.2:p.Pro1404_Pro1405insProGlyProProGlyProProGlyPro
NM_130445.3:c.2966_2967insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	NP_569712.2:p.Pro989_Pro990insProGlyProProGlyProProGlyPro
XM_011529707.1:c.1585-2258_1585-2257insTGGGGGGCCGGGAGGGCCTGGGGGGCC (SLC19A1)	XP_011528009.1:n.1585-2258_1585-2257insTGGGGGGCCGGGAGGGCCTGGG...
XM_017028445.2:c.1585-2258_1585-2257insTGGGGGGCCGGGAGGGCCTGGGGGGCC (SLC19A1)	XP_016883934.1:n.1585-2258_1585-2257insTGGGGGGCCGGGAGGGCCTGGG...
NM_030582.4:c.3506_3507insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	NP_085059.2:p.Pro1169_Pro1170insProGlyProProGlyProProGlyPro
NM_130444.3:c.4211_4212insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	NP_569711.2:p.Pro1404_Pro1405insProGlyProProGlyProProGlyPro
NM_130445.4:c.2966_2967insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1)	NP_569712.2:p.Pro989_Pro990insProGlyProProGlyProProGlyPro
NM_001379500.1:c.2975_2976insTCCCGGCCCCCCAGGCCCCCCAGGCCC (COL18A1) MANE Select	NP_001366429.1:p.Pro992_Pro993insProGlyProProGlyProProGlyPro