Canonical Allele Identifier: CA2392190820

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504604_45504610delinsTGCAGGA , CM000683.2:g.45504604_45504610delinsTGCAGGA	GRCh38
NC_000021.8:g.46924518_46924524delinsTGCAGGA , CM000683.1:g.46924518_46924524delinsTGCAGGA	GRCh37
NC_000021.7:g.45748946_45748952delinsTGCAGGA	NCBI36
NG_011903.1:g.104413_104419delinsTGCAGGA
NG_028278.2:g.63534_63540delinsTCCTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3408+48_3408+54delinsTGCAGGA (COL18A1)	ENSP00000347665.5:n.3408+48_3408+54delinsTGCAGGA
ENST00000651438.1:c.2868+48_2868+54delinsTGCAGGA (COL18A1) MANE Select	ENSP00000498485.1:n.2868+48_2868+54delinsTGCAGGA
ENST00000342220.9:c.909+48_909+54delinsTGCAGGA (COL18A1)	ENSP00000339118.5:n.909+48_909+54delinsTGCAGGA
ENST00000355480.9:c.3408+48_3408+54delinsTGCAGGA (COL18A1)	ENSP00000347665.5:n.3408+48_3408+54delinsTGCAGGA
ENST00000359759.8:c.4113+48_4113+54delinsTGCAGGA (COL18A1)	ENSP00000352798.4:n.4113+48_4113+54delinsTGCAGGA
ENST00000400337.6:c.2868+48_2868+54delinsTGCAGGA (COL18A1)	ENSP00000383191.2:n.2868+48_2868+54delinsTGCAGGA
ENST00000417954.5:c.498-5998_498-5992delinsTCCTGCA (SLC19A1)
ENST00000567670.5:c.1294-5998_1294-5992delinsTCCTGCA (SLC19A1)	ENSP00000457278.1:n.1294-5998_1294-5992delinsTCCTGCA
NM_030582.3:c.3399+48_3399+54delinsTGCAGGA (COL18A1)	NP_085059.2:n.3399+48_3399+54delinsTGCAGGA
NM_130444.2:c.4104+48_4104+54delinsTGCAGGA (COL18A1)	NP_569711.2:n.4104+48_4104+54delinsTGCAGGA
NM_130445.3:c.2859+48_2859+54delinsTGCAGGA (COL18A1)	NP_569712.2:n.2859+48_2859+54delinsTGCAGGA
XM_011529707.1:c.1585-1641_1585-1635delinsTCCTGCA (SLC19A1)	XP_011528009.1:n.1585-1641_1585-1635delinsTCCTGCA
XM_017028445.2:c.1585-1641_1585-1635delinsTCCTGCA (SLC19A1)	XP_016883934.1:n.1585-1641_1585-1635delinsTCCTGCA
NM_030582.4:c.3399+48_3399+54delinsTGCAGGA (COL18A1)	NP_085059.2:n.3399+48_3399+54delinsTGCAGGA
NM_130444.3:c.4104+48_4104+54delinsTGCAGGA (COL18A1)	NP_569711.2:n.4104+48_4104+54delinsTGCAGGA
NM_130445.4:c.2859+48_2859+54delinsTGCAGGA (COL18A1)	NP_569712.2:n.2859+48_2859+54delinsTGCAGGA
NM_001379500.1:c.2868+48_2868+54delinsTGCAGGA (COL18A1) MANE Select	NP_001366429.1:n.2868+48_2868+54delinsTGCAGGA