Canonical Allele Identifier: CA2654918203

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45504503-GGCCCCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504505_45504512del , CM000683.2:g.45504505_45504512del	GRCh38
NC_000021.8:g.46924419_46924426del , CM000683.1:g.46924419_46924426del	GRCh37
NC_000021.7:g.45748847_45748854del	NCBI36
NG_028278.2:g.63633_63640del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3357_3364del (COL18A1)	ENSP00000347665.5:p.Gly1122ArgfsTer?
ENST00000651438.1:c.2817_2824del (COL18A1) MANE Select	ENSP00000498485.1:p.Gly942ArgfsTer?
ENST00000342220.9:c.858_865del (COL18A1)	ENSP00000339118.5:p.Gly289ArgfsTer?
ENST00000355480.9:c.3357_3364del (COL18A1)	ENSP00000347665.5:p.Gly1122ArgfsTer?
ENST00000359759.8:c.4062_4069del (COL18A1)	ENSP00000352798.4:p.Gly1357ArgfsTer?
ENST00000400337.6:c.2817_2824del (COL18A1)	ENSP00000383191.2:p.Gly942ArgfsTer?
ENST00000417954.5:c.498-5899_498-5892del (SLC19A1)
ENST00000567670.5:c.1294-5899_1294-5892del (SLC19A1)	ENSP00000457278.1:n.1294-5899_1294-5892de...
NM_030582.3:c.3357_3364del (COL18A1)	NP_085059.2:p.Gly1122ArgfsTer?
NM_130444.2:c.4062_4069del (COL18A1)	NP_569711.2:p.Gly1357ArgfsTer?
NM_130445.3:c.2817_2824del (COL18A1)	NP_569712.2:p.Gly942ArgfsTer?
XM_011529707.1:c.1585-1542_1585-1535del (SLC19A1)	XP_011528009.1:n.1585-1542_1585-1535del
XM_017028445.2:c.1585-1542_1585-1535del (SLC19A1)	XP_016883934.1:n.1585-1542_1585-1535del
NM_030582.4:c.3357_3364del (COL18A1)	NP_085059.2:p.Gly1122ArgfsTer?
NM_130444.3:c.4062_4069del (COL18A1)	NP_569711.2:p.Gly1357ArgfsTer?
NM_130445.4:c.2817_2824del (COL18A1)	NP_569712.2:p.Gly942ArgfsTer?
NM_001379500.1:c.2817_2824del (COL18A1) MANE Select	NP_001366429.1:p.Gly942ArgfsTer?