Canonical Allele Identifier: CA2392191273

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505235_45505245delinsAGGCCCCCCAG , CM000683.2:g.45505235_45505245delinsAGGCCCCCCAG	GRCh38
NC_000021.8:g.46925149_46925159delinsAGGCCCCCCAG , CM000683.1:g.46925149_46925159delinsAGGCCCCCCAG	GRCh37
NC_000021.7:g.45749577_45749587delinsAGGCCCCCCAG	NCBI36
NG_011903.1:g.105044_105054delinsAGGCCCCCCAG
NG_028278.2:g.62899_62909delinsCTGGGGGGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3510_3520delinsAGGCCCCCCAG (COL18A1)	ENSP00000347665.5:p.Pro1170=
ENST00000651438.1:c.2970_2980delinsAGGCCCCCCAG (COL18A1) MANE Select	ENSP00000498485.1:p.Pro990=
ENST00000342220.9:c.1011_1021delinsAGGCCCCCCAG (COL18A1)	ENSP00000339118.5:p.Pro337=
ENST00000355480.9:c.3510_3520delinsAGGCCCCCCAG (COL18A1)	ENSP00000347665.5:p.Pro1170=
ENST00000359759.8:c.4215_4225delinsAGGCCCCCCAG (COL18A1)	ENSP00000352798.4:p.Pro1405=
ENST00000400337.6:c.2970_2980delinsAGGCCCCCCAG (COL18A1)	ENSP00000383191.2:p.Pro990=
ENST00000417954.5:c.498-6633_498-6623delinsCTGGGGGGCCT (SLC19A1)
ENST00000567670.5:c.1294-6633_1294-6623delinsCTGGGGGGCCT (SLC19A1)	ENSP00000457278.1:n.1294-6633_1294-6623de...
NM_030582.3:c.3501_3511delinsAGGCCCCCCAG (COL18A1)	NP_085059.2:p.Pro1167=
NM_130444.2:c.4206_4216delinsAGGCCCCCCAG (COL18A1)	NP_569711.2:p.Pro1402=
NM_130445.3:c.2961_2971delinsAGGCCCCCCAG (COL18A1)	NP_569712.2:p.Pro987=
XM_011529707.1:c.1585-2276_1585-2266delinsCTGGGGGGCCT (SLC19A1)	XP_011528009.1:n.1585-2276_1585-2266delin...
XM_017028445.2:c.1585-2276_1585-2266delinsCTGGGGGGCCT (SLC19A1)	XP_016883934.1:n.1585-2276_1585-2266delin...
NM_030582.4:c.3501_3511delinsAGGCCCCCCAG (COL18A1)	NP_085059.2:p.Pro1167=
NM_130444.3:c.4206_4216delinsAGGCCCCCCAG (COL18A1)	NP_569711.2:p.Pro1402=
NM_130445.4:c.2961_2971delinsAGGCCCCCCAG (COL18A1)	NP_569712.2:p.Pro987=
NM_001379500.1:c.2970_2980delinsAGGCCCCCCAG (COL18A1) MANE Select	NP_001366429.1:p.Pro990=