Canonical Allele Identifier: CA1022823886

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs2037066445
• gnomAD v3: 21-45504520-AGGC-A
• gnomAD v4: 21-45504520-AGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504521_45504523del , CM000683.2:g.45504521_45504523del	GRCh38
NC_000021.8:g.46924435_46924437del , CM000683.1:g.46924435_46924437del	GRCh37
NC_000021.7:g.45748863_45748865del	NCBI36
NG_011903.1:g.104330_104332del
NG_028278.2:g.63621_63623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3373_3375del (COL18A1)	ENSP00000347665.5:p.Gly1125del
ENST00000651438.1:c.2833_2835del (COL18A1) MANE Select	ENSP00000498485.1:p.Gly945del
ENST00000342220.9:c.874_876del (COL18A1)	ENSP00000339118.5:p.Gly292del
ENST00000355480.9:c.3373_3375del (COL18A1)	ENSP00000347665.5:p.Gly1125del
ENST00000359759.8:c.4078_4080del (COL18A1)	ENSP00000352798.4:p.Gly1360del
ENST00000400337.6:c.2833_2835del (COL18A1)	ENSP00000383191.2:p.Gly945del
ENST00000417954.5:c.498-5911_498-5909del (SLC19A1)
ENST00000567670.5:c.1294-5911_1294-5909del (SLC19A1)	ENSP00000457278.1:n.1294-5911_1294-5909del
NM_030582.3:c.3373_3375del (COL18A1)	NP_085059.2:p.Gly1125del
NM_130444.2:c.4078_4080del (COL18A1)	NP_569711.2:p.Gly1360del
NM_130445.3:c.2833_2835del (COL18A1)	NP_569712.2:p.Gly945del
XM_011529707.1:c.1585-1554_1585-1552del (SLC19A1)	XP_011528009.1:n.1585-1554_1585-1552del
XM_017028445.2:c.1585-1554_1585-1552del (SLC19A1)	XP_016883934.1:n.1585-1554_1585-1552del
NM_030582.4:c.3373_3375del (COL18A1)	NP_085059.2:p.Gly1125del
NM_130444.3:c.4078_4080del (COL18A1)	NP_569711.2:p.Gly1360del
NM_130445.4:c.2833_2835del (COL18A1)	NP_569712.2:p.Gly945del
NM_001379500.1:c.2833_2835del (COL18A1) MANE Select	NP_001366429.1:p.Gly945del