Canonical Allele Identifier: CA2654918476

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45504529-AGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504530_45504533del , CM000683.2:g.45504530_45504533del	GRCh38
NC_000021.8:g.46924444_46924447del , CM000683.1:g.46924444_46924447del	GRCh37
NC_000021.7:g.45748872_45748875del	NCBI36
NG_011903.1:g.104339_104342del
NG_028278.2:g.63611_63614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3382_3385del (COL18A1)	ENSP00000347665.5:p.Gly1128HisfsTer?
ENST00000651438.1:c.2842_2845del (COL18A1) MANE Select	ENSP00000498485.1:p.Gly948HisfsTer?
ENST00000342220.9:c.883_886del (COL18A1)	ENSP00000339118.5:p.Gly295HisfsTer?
ENST00000355480.9:c.3382_3385del (COL18A1)	ENSP00000347665.5:p.Gly1128HisfsTer?
ENST00000359759.8:c.4087_4090del (COL18A1)	ENSP00000352798.4:p.Gly1363HisfsTer?
ENST00000400337.6:c.2842_2845del (COL18A1)	ENSP00000383191.2:p.Gly948HisfsTer?
ENST00000417954.5:c.498-5921_498-5918del (SLC19A1)
ENST00000567670.5:c.1294-5921_1294-5918del (SLC19A1)	ENSP00000457278.1:n.1294-5921_1294-5918del
XM_011529707.1:c.1585-1564_1585-1561del (SLC19A1)	XP_011528009.1:n.1585-1564_1585-1561del
XM_017028445.2:c.1585-1564_1585-1561del (SLC19A1)	XP_016883934.1:n.1585-1564_1585-1561del
NM_001379500.1:c.2842_2845del (COL18A1) MANE Select	NP_001366429.1:p.Gly948HisfsTer?