Canonical Allele Identifier: CA2654918235

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45504505-CCCCCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504506_45504512del , CM000683.2:g.45504506_45504512del	GRCh38
NC_000021.8:g.46924420_46924426del , CM000683.1:g.46924420_46924426del	GRCh37
NC_000021.7:g.45748848_45748854del	NCBI36
NG_028278.2:g.63632_63638del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3358_3364del (COL18A1)	ENSP00000347665.5:p.Pro1120AlafsTer?
ENST00000651438.1:c.2818_2824del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro940AlafsTer?
ENST00000342220.9:c.859_865del (COL18A1)	ENSP00000339118.5:p.Pro287AlafsTer?
ENST00000355480.9:c.3358_3364del (COL18A1)	ENSP00000347665.5:p.Pro1120AlafsTer?
ENST00000359759.8:c.4063_4069del (COL18A1)	ENSP00000352798.4:p.Pro1355AlafsTer?
ENST00000400337.6:c.2818_2824del (COL18A1)	ENSP00000383191.2:p.Pro940AlafsTer?
ENST00000417954.5:c.498-5900_498-5894del (SLC19A1)
ENST00000567670.5:c.1294-5900_1294-5894del (SLC19A1)	ENSP00000457278.1:n.1294-5900_1294-5894de...
NM_030582.3:c.3358_3364del (COL18A1)	NP_085059.2:p.Pro1120AlafsTer?
NM_130444.2:c.4063_4069del (COL18A1)	NP_569711.2:p.Pro1355AlafsTer?
NM_130445.3:c.2818_2824del (COL18A1)	NP_569712.2:p.Pro940AlafsTer?
XM_011529707.1:c.1585-1543_1585-1537del (SLC19A1)	XP_011528009.1:n.1585-1543_1585-1537del
XM_017028445.2:c.1585-1543_1585-1537del (SLC19A1)	XP_016883934.1:n.1585-1543_1585-1537del
NM_030582.4:c.3358_3364del (COL18A1)	NP_085059.2:p.Pro1120AlafsTer?
NM_130444.3:c.4063_4069del (COL18A1)	NP_569711.2:p.Pro1355AlafsTer?
NM_130445.4:c.2818_2824del (COL18A1)	NP_569712.2:p.Pro940AlafsTer?
NM_001379500.1:c.2818_2824del (COL18A1) MANE Select	NP_001366429.1:p.Pro940AlafsTer?