Canonical Allele Identifier: CA2392190716

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504499_45504508delinsGCCCGGCCCC , CM000683.2:g.45504499_45504508delinsGCCCGGCCCC	GRCh38
NC_000021.8:g.46924413_46924422delinsGCCCGGCCCC , CM000683.1:g.46924413_46924422delinsGCCCGGCCCC	GRCh37
NC_000021.7:g.45748841_45748850delinsGCCCGGCCCC	NCBI36
NG_011903.1:g.104317_104326delinsGCCCGGCCCC
NG_028278.2:g.63636_63645delinsGGGGCCGGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3351_3360delinsGCCCGGCCCC (COL18A1)	ENSP00000347665.5:p.Leu1117=
ENST00000651438.1:c.2811_2820delinsGCCCGGCCCC (COL18A1) MANE Select	ENSP00000498485.1:p.Leu937=
ENST00000342220.9:c.852_861delinsGCCCGGCCCC (COL18A1)	ENSP00000339118.5:p.Leu284=
ENST00000355480.9:c.3351_3360delinsGCCCGGCCCC (COL18A1)	ENSP00000347665.5:p.Leu1117=
ENST00000359759.8:c.4056_4065delinsGCCCGGCCCC (COL18A1)	ENSP00000352798.4:p.Leu1352=
ENST00000400337.6:c.2811_2820delinsGCCCGGCCCC (COL18A1)	ENSP00000383191.2:p.Leu937=
ENST00000417954.5:c.498-5896_498-5887delinsGGGGCCGGGC (SLC19A1)
ENST00000567670.5:c.1294-5896_1294-5887delinsGGGGCCGGGC (SLC19A1)	ENSP00000457278.1:n.1294-5896_1294-5887de...
NM_030582.3:c.3351_3360delinsGCCCGGCCCC (COL18A1)	NP_085059.2:p.Leu1117=
NM_130444.2:c.4056_4065delinsGCCCGGCCCC (COL18A1)	NP_569711.2:p.Leu1352=
NM_130445.3:c.2811_2820delinsGCCCGGCCCC (COL18A1)	NP_569712.2:p.Leu937=
XM_011529707.1:c.1585-1539_1585-1530delinsGGGGCCGGGC (SLC19A1)	XP_011528009.1:n.1585-1539_1585-1530delin...
XM_017028445.2:c.1585-1539_1585-1530delinsGGGGCCGGGC (SLC19A1)	XP_016883934.1:n.1585-1539_1585-1530delin...
NM_030582.4:c.3351_3360delinsGCCCGGCCCC (COL18A1)	NP_085059.2:p.Leu1117=
NM_130444.3:c.4056_4065delinsGCCCGGCCCC (COL18A1)	NP_569711.2:p.Leu1352=
NM_130445.4:c.2811_2820delinsGCCCGGCCCC (COL18A1)	NP_569712.2:p.Leu937=
NM_001379500.1:c.2811_2820delinsGCCCGGCCCC (COL18A1) MANE Select	NP_001366429.1:p.Leu937=