Canonical Allele Identifier: CA10067480

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1165701
• ClinVar RCV Id: RCV001513041
• dbSNP Id: rs201180574
• ExAC: 21:46924416 CGGCCCCCCCGGCCCCCCA / C
• gnomAD v2: 21-46924416-CGGCCCCCCCGGCCCCCCA-C
• gnomAD v3: 21-45504502-CGGCCCCCCCGGCCCCCCA-C
• gnomAD v4: 21-45504502-CGGCCCCCCCGGCCCCCCA-C
• COSMIC: COSM5003304 ; COSM5003305
• MyVariant Identifiers: chr21:g.46924417_46924434del (hg19) ; chr21:g.45504504_45504521del (hg38) ; chr21:g.45504503_45504520del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504511_45504528del , CM000683.2:g.45504511_45504528del	GRCh38
NC_000021.8:g.46924425_46924442del , CM000683.1:g.46924425_46924442del	GRCh37
NC_000021.7:g.45748853_45748870del	NCBI36
NG_028278.2:g.63624_63641del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3363_3380del (COL18A1)	ENSP00000347665.5:p.Gly1122_Pro1127del
ENST00000651438.1:c.2823_2840del (COL18A1) MANE Select	ENSP00000498485.1:p.Gly942_Pro947del
ENST00000342220.9:c.864_881del (COL18A1)	ENSP00000339118.5:p.Gly289_Pro294del
ENST00000355480.9:c.3363_3380del (COL18A1)	ENSP00000347665.5:p.Gly1122_Pro1127del
ENST00000359759.8:c.4068_4085del (COL18A1)	ENSP00000352798.4:p.Gly1357_Pro1362del
ENST00000400337.6:c.2823_2840del (COL18A1)	ENSP00000383191.2:p.Gly942_Pro947del
ENST00000417954.5:c.498-5908_498-5891del (SLC19A1)
ENST00000567670.5:c.1294-5908_1294-5891del (SLC19A1)	ENSP00000457278.1:n.1294-5908_1294-5891de...
XM_011529707.1:c.1585-1551_1585-1534del (SLC19A1)	XP_011528009.1:n.1585-1551_1585-1534del
XM_017028445.2:c.1585-1551_1585-1534del (SLC19A1)	XP_016883934.1:n.1585-1551_1585-1534del
NM_001379500.1:c.2823_2840del (COL18A1) MANE Select	NP_001366429.1:p.Gly942_Pro947del