Canonical Allele Identifier: CA2654919265

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45505211-GCGCCAGGGCCCTCCCGGCCCCCCAGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505213_45505240del , CM000683.2:g.45505213_45505240del	GRCh38
NC_000021.8:g.46925127_46925154del , CM000683.1:g.46925127_46925154del	GRCh37
NC_000021.7:g.45749555_45749582del	NCBI36
NG_011903.1:g.105022_105049del
NG_028278.2:g.62905_62932del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3488_3515del (COL18A1)	ENSP00000347665.5:p.Arg1163ProfsTer?
ENST00000651438.1:c.2948_2975del (COL18A1) MANE Select	ENSP00000498485.1:p.Arg983ProfsTer?
ENST00000342220.9:c.989_1016del (COL18A1)	ENSP00000339118.5:p.Arg330ProfsTer?
ENST00000355480.9:c.3488_3515del (COL18A1)	ENSP00000347665.5:p.Arg1163ProfsTer?
ENST00000359759.8:c.4193_4220del (COL18A1)	ENSP00000352798.4:p.Arg1398ProfsTer?
ENST00000400337.6:c.2948_2975del (COL18A1)	ENSP00000383191.2:p.Arg983ProfsTer?
ENST00000417954.5:c.498-6627_498-6600del (SLC19A1)
ENST00000567670.5:c.1294-6627_1294-6600del (SLC19A1)	ENSP00000457278.1:n.1294-6627_1294-6600del
NM_030582.3:c.3479_3506del (COL18A1)	NP_085059.2:p.Arg1160ProfsTer?
NM_130444.2:c.4184_4211del (COL18A1)	NP_569711.2:p.Arg1395ProfsTer?
NM_130445.3:c.2939_2966del (COL18A1)	NP_569712.2:p.Arg980ProfsTer?
XM_011529707.1:c.1585-2270_1585-2243del (SLC19A1)	XP_011528009.1:n.1585-2270_1585-2243del
XM_017028445.2:c.1585-2270_1585-2243del (SLC19A1)	XP_016883934.1:n.1585-2270_1585-2243del
NM_030582.4:c.3479_3506del (COL18A1)	NP_085059.2:p.Arg1160ProfsTer?
NM_130444.3:c.4184_4211del (COL18A1)	NP_569711.2:p.Arg1395ProfsTer?
NM_130445.4:c.2939_2966del (COL18A1)	NP_569712.2:p.Arg980ProfsTer?
NM_001379500.1:c.2948_2975del (COL18A1) MANE Select	NP_001366429.1:p.Arg983ProfsTer?