Canonical Allele Identifier: CA2654918509

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45504552-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504553_45504554del , CM000683.2:g.45504553_45504554del	GRCh38
NC_000021.8:g.46924467_46924468del , CM000683.1:g.46924467_46924468del	GRCh37
NC_000021.7:g.45748895_45748896del	NCBI36
NG_011903.1:g.104362_104363del
NG_028278.2:g.63590_63591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3405_3406del (COL18A1)	ENSP00000347665.5:p.Pro1136ArgfsTer?
ENST00000651438.1:c.2865_2866del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro956ArgfsTer?
ENST00000342220.9:c.906_907del (COL18A1)	ENSP00000339118.5:p.Pro303ArgfsTer?
ENST00000355480.9:c.3405_3406del (COL18A1)	ENSP00000347665.5:p.Pro1136ArgfsTer?
ENST00000359759.8:c.4110_4111del (COL18A1)	ENSP00000352798.4:p.Pro1371ArgfsTer?
ENST00000400337.6:c.2865_2866del (COL18A1)	ENSP00000383191.2:p.Pro956ArgfsTer?
ENST00000417954.5:c.498-5942_498-5941del (SLC19A1)
ENST00000567670.5:c.1294-5942_1294-5941del (SLC19A1)	ENSP00000457278.1:n.1294-5942_1294-5941del
NM_030582.3:c.3396_3397del (COL18A1)	NP_085059.2:p.Pro1133ArgfsTer?
NM_130444.2:c.4101_4102del (COL18A1)	NP_569711.2:p.Pro1368ArgfsTer?
NM_130445.3:c.2856_2857del (COL18A1)	NP_569712.2:p.Pro953ArgfsTer?
XM_011529707.1:c.1585-1585_1585-1584del (SLC19A1)	XP_011528009.1:n.1585-1585_1585-1584del
XM_017028445.2:c.1585-1585_1585-1584del (SLC19A1)	XP_016883934.1:n.1585-1585_1585-1584del
NM_030582.4:c.3396_3397del (COL18A1)	NP_085059.2:p.Pro1133ArgfsTer?
NM_130444.3:c.4101_4102del (COL18A1)	NP_569711.2:p.Pro1368ArgfsTer?
NM_130445.4:c.2856_2857del (COL18A1)	NP_569712.2:p.Pro953ArgfsTer?
NM_001379500.1:c.2865_2866del (COL18A1) MANE Select	NP_001366429.1:p.Pro956ArgfsTer?