Canonical Allele Identifier: CA2392190974

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504808_45504816delinsACCTCTGCT , CM000683.2:g.45504808_45504816delinsACCTCTGCT	GRCh38
NC_000021.8:g.46924722_46924730delinsACCTCTGCT , CM000683.1:g.46924722_46924730delinsACCTCTGCT	GRCh37
NC_000021.7:g.45749150_45749158delinsACCTCTGCT	NCBI36
NG_011903.1:g.104617_104625delinsACCTCTGCT
NG_028278.2:g.63328_63336delinsAGCAGAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3408+252_3408+260delinsACCTCTGCT (COL18A1)	ENSP00000347665.5:n.3408+252_3408+260delinsACCTCTGCT
ENST00000651438.1:c.2868+252_2868+260delinsACCTCTGCT (COL18A1) MANE Select	ENSP00000498485.1:n.2868+252_2868+260delinsACCTCTGCT
ENST00000342220.9:c.909+252_909+260delinsACCTCTGCT (COL18A1)	ENSP00000339118.5:n.909+252_909+260delinsACCTCTGCT
ENST00000355480.9:c.3408+252_3408+260delinsACCTCTGCT (COL18A1)	ENSP00000347665.5:n.3408+252_3408+260delinsACCTCTGCT
ENST00000359759.8:c.4113+252_4113+260delinsACCTCTGCT (COL18A1)	ENSP00000352798.4:n.4113+252_4113+260delinsACCTCTGCT
ENST00000400337.6:c.2868+252_2868+260delinsACCTCTGCT (COL18A1)	ENSP00000383191.2:n.2868+252_2868+260delinsACCTCTGCT
ENST00000417954.5:c.498-6204_498-6196delinsAGCAGAGGT (SLC19A1)
ENST00000567670.5:c.1294-6204_1294-6196delinsAGCAGAGGT (SLC19A1)	ENSP00000457278.1:n.1294-6204_1294-6196delinsAGCAGAGGT
NM_030582.3:c.3399+252_3399+260delinsACCTCTGCT (COL18A1)	NP_085059.2:n.3399+252_3399+260delinsACCTCTGCT
NM_130444.2:c.4104+252_4104+260delinsACCTCTGCT (COL18A1)	NP_569711.2:n.4104+252_4104+260delinsACCTCTGCT
NM_130445.3:c.2859+252_2859+260delinsACCTCTGCT (COL18A1)	NP_569712.2:n.2859+252_2859+260delinsACCTCTGCT
XM_011529707.1:c.1585-1847_1585-1839delinsAGCAGAGGT (SLC19A1)	XP_011528009.1:n.1585-1847_1585-1839delinsAGCAGAGGT
XM_017028445.2:c.1585-1847_1585-1839delinsAGCAGAGGT (SLC19A1)	XP_016883934.1:n.1585-1847_1585-1839delinsAGCAGAGGT
NM_030582.4:c.3399+252_3399+260delinsACCTCTGCT (COL18A1)	NP_085059.2:n.3399+252_3399+260delinsACCTCTGCT
NM_130444.3:c.4104+252_4104+260delinsACCTCTGCT (COL18A1)	NP_569711.2:n.4104+252_4104+260delinsACCTCTGCT
NM_130445.4:c.2859+252_2859+260delinsACCTCTGCT (COL18A1)	NP_569712.2:n.2859+252_2859+260delinsACCTCTGCT
NM_001379500.1:c.2868+252_2868+260delinsACCTCTGCT (COL18A1) MANE Select	NP_001366429.1:n.2868+252_2868+260delinsACCTCTGCT