Canonical Allele Identifier: CA2654918347

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45504513-G-GGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504513_45504514insGCT , CM000683.2:g.45504513_45504514insGCT	GRCh38
NC_000021.8:g.46924427_46924428insGCT , CM000683.1:g.46924427_46924428insGCT	GRCh37
NC_000021.7:g.45748855_45748856insGCT	NCBI36
NG_028278.2:g.63630_63631insAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3365_3366insGCT (COL18A1)	ENSP00000347665.5:p.Gly1122_Pro1123insLeu
ENST00000651438.1:c.2825_2826insGCT (COL18A1) MANE Select	ENSP00000498485.1:p.Gly942_Pro943insLeu
ENST00000342220.9:c.866_867insGCT (COL18A1)	ENSP00000339118.5:p.Gly289_Pro290insLeu
ENST00000355480.9:c.3365_3366insGCT (COL18A1)	ENSP00000347665.5:p.Gly1122_Pro1123insLeu
ENST00000359759.8:c.4070_4071insGCT (COL18A1)	ENSP00000352798.4:p.Gly1357_Pro1358insLeu
ENST00000400337.6:c.2825_2826insGCT (COL18A1)	ENSP00000383191.2:p.Gly942_Pro943insLeu
ENST00000417954.5:c.498-5902_498-5901insAGC (SLC19A1)
ENST00000567670.5:c.1294-5902_1294-5901insAGC (SLC19A1)	ENSP00000457278.1:n.1294-5902_1294-5901insAGC
NM_030582.3:c.3365_3366insGCT (COL18A1)	NP_085059.2:p.Gly1122_Pro1123insLeu
NM_130444.2:c.4070_4071insGCT (COL18A1)	NP_569711.2:p.Gly1357_Pro1358insLeu
NM_130445.3:c.2825_2826insGCT (COL18A1)	NP_569712.2:p.Gly942_Pro943insLeu
XM_011529707.1:c.1585-1545_1585-1544insAGC (SLC19A1)	XP_011528009.1:n.1585-1545_1585-1544insAGC
XM_017028445.2:c.1585-1545_1585-1544insAGC (SLC19A1)	XP_016883934.1:n.1585-1545_1585-1544insAGC
NM_030582.4:c.3365_3366insGCT (COL18A1)	NP_085059.2:p.Gly1122_Pro1123insLeu
NM_130444.3:c.4070_4071insGCT (COL18A1)	NP_569711.2:p.Gly1357_Pro1358insLeu
NM_130445.4:c.2825_2826insGCT (COL18A1)	NP_569712.2:p.Gly942_Pro943insLeu
NM_001379500.1:c.2825_2826insGCT (COL18A1) MANE Select	NP_001366429.1:p.Gly942_Pro943insLeu