Canonical Allele Identifier: CA2654919194

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45505155-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505159dup , CM000683.2:g.45505159dup	GRCh38
NC_000021.8:g.46925073dup , CM000683.1:g.46925073dup	GRCh37
NC_000021.7:g.45749501dup	NCBI36
NG_011903.1:g.104968dup
NG_028278.2:g.62988dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3434dup (COL18A1)	ENSP00000347665.5:p.Gln1146ProfsTer?
ENST00000651438.1:c.2894dup (COL18A1) MANE Select	ENSP00000498485.1:p.Gln966ProfsTer?
ENST00000342220.9:c.935dup (COL18A1)	ENSP00000339118.5:p.Gln313ProfsTer?
ENST00000355480.9:c.3434dup (COL18A1)	ENSP00000347665.5:p.Gln1146ProfsTer?
ENST00000359759.8:c.4139dup (COL18A1)	ENSP00000352798.4:p.Gln1381ProfsTer?
ENST00000400337.6:c.2894dup (COL18A1)	ENSP00000383191.2:p.Gln966ProfsTer?
ENST00000417954.5:c.498-6544dup (SLC19A1)
ENST00000567670.5:c.1294-6544dup (SLC19A1)	ENSP00000457278.1:n.1294-6544dup
NM_030582.3:c.3425dup (COL18A1)	NP_085059.2:p.Gln1143ProfsTer?
NM_130444.2:c.4130dup (COL18A1)	NP_569711.2:p.Gln1378ProfsTer?
NM_130445.3:c.2885dup (COL18A1)	NP_569712.2:p.Gln963ProfsTer?
XM_011529707.1:c.1585-2187dup (SLC19A1)	XP_011528009.1:n.1585-2187dup
XM_017028445.2:c.1585-2187dup (SLC19A1)	XP_016883934.1:n.1585-2187dup
NM_030582.4:c.3425dup (COL18A1)	NP_085059.2:p.Gln1143ProfsTer?
NM_130444.3:c.4130dup (COL18A1)	NP_569711.2:p.Gln1378ProfsTer?
NM_130445.4:c.2885dup (COL18A1)	NP_569712.2:p.Gln963ProfsTer?
NM_001379500.1:c.2894dup (COL18A1) MANE Select	NP_001366429.1:p.Gln966ProfsTer?