Canonical Allele Identifier: CA10067570

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 2169431
• ClinVar RCV Id: RCV003084820 ; RCV004550403
• dbSNP Id: rs760640619
• ExAC: 21:46925131 GGGCCCTCCC / G
• gnomAD v2: 21-46925131-GGGCCCTCCC-G
• gnomAD v3: 21-45505217-GGGCCCTCCC-G
• gnomAD v4: 21-45505217-GGGCCCTCCC-G
• MyVariant Identifiers: chr21:g.46925132_46925140del (hg19) ; chr21:g.45505219_45505227del (hg38) ; chr21:g.45505218_45505226del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505223_45505231del , CM000683.2:g.45505223_45505231del	GRCh38
NC_000021.8:g.46925137_46925145del , CM000683.1:g.46925137_46925145del	GRCh37
NC_000021.7:g.45749565_45749573del	NCBI36
NG_011903.1:g.105032_105040del
NG_028278.2:g.62918_62926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3498_3506del (COL18A1)	ENSP00000347665.5:p.Pro1167_Pro1169del
ENST00000651438.1:c.2958_2966del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro987_Pro989del
ENST00000342220.9:c.999_1007del (COL18A1)	ENSP00000339118.5:p.Pro334_Pro336del
ENST00000355480.9:c.3498_3506del (COL18A1)	ENSP00000347665.5:p.Pro1167_Pro1169del
ENST00000359759.8:c.4203_4211del (COL18A1)	ENSP00000352798.4:p.Pro1402_Pro1404del
ENST00000400337.6:c.2958_2966del (COL18A1)	ENSP00000383191.2:p.Pro987_Pro989del
ENST00000417954.5:c.498-6614_498-6606del (SLC19A1)
ENST00000567670.5:c.1294-6614_1294-6606del (SLC19A1)	ENSP00000457278.1:n.1294-6614_1294-6606del
NM_030582.3:c.3489_3497del (COL18A1)	NP_085059.2:p.Pro1164_Pro1166del
NM_130444.2:c.4194_4202del (COL18A1)	NP_569711.2:p.Pro1399_Pro1401del
NM_130445.3:c.2949_2957del (COL18A1)	NP_569712.2:p.Pro984_Pro986del
XM_011529707.1:c.1585-2257_1585-2249del (SLC19A1)	XP_011528009.1:n.1585-2257_1585-2249del
XM_017028445.2:c.1585-2257_1585-2249del (SLC19A1)	XP_016883934.1:n.1585-2257_1585-2249del
NM_030582.4:c.3489_3497del (COL18A1)	NP_085059.2:p.Pro1164_Pro1166del
NM_130444.3:c.4194_4202del (COL18A1)	NP_569711.2:p.Pro1399_Pro1401del
NM_130445.4:c.2949_2957del (COL18A1)	NP_569712.2:p.Pro984_Pro986del
NM_001379500.1:c.2958_2966del (COL18A1) MANE Select	NP_001366429.1:p.Pro987_Pro989del