Canonical Allele Identifier: CA10067586

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1631036
• ClinVar RCV Id: RCV002123746
• dbSNP Id: rs781660752
• ExAC: 21:46925152 CCCCCCAGGG / C
• gnomAD v2: 21-46925152-CCCCCCAGGG-C
• gnomAD v3: 21-45505238-CCCCCCAGGG-C
• gnomAD v4: 21-45505238-CCCCCCAGGG-C
• COSMIC: COSM4615660 ; COSM4615661
• MyVariant Identifiers: chr21:g.46925153_46925161del (hg19) ; chr21:g.45505240_45505248del (hg38) ; chr21:g.45505239_45505247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505244_45505252del , CM000683.2:g.45505244_45505252del	GRCh38
NC_000021.8:g.46925158_46925166del , CM000683.1:g.46925158_46925166del	GRCh37
NC_000021.7:g.45749586_45749594del	NCBI36
NG_011903.1:g.105053_105061del
NG_028278.2:g.62897_62905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3519_3527del (COL18A1)	ENSP00000347665.5:p.Gly1174_Pro1176del
ENST00000651438.1:c.2979_2987del (COL18A1) MANE Select	ENSP00000498485.1:p.Gly994_Pro996del
ENST00000342220.9:c.1020_1028del (COL18A1)	ENSP00000339118.5:p.Gly341_Pro343del
ENST00000355480.9:c.3519_3527del (COL18A1)	ENSP00000347665.5:p.Gly1174_Pro1176del
ENST00000359759.8:c.4224_4232del (COL18A1)	ENSP00000352798.4:p.Gly1409_Pro1411del
ENST00000400337.6:c.2979_2987del (COL18A1)	ENSP00000383191.2:p.Gly994_Pro996del
ENST00000417954.5:c.498-6635_498-6627del (SLC19A1)
ENST00000567670.5:c.1294-6635_1294-6627del (SLC19A1)	ENSP00000457278.1:n.1294-6635_1294-6627del
NM_030582.3:c.3510_3518del (COL18A1)	NP_085059.2:p.Gly1171_Pro1173del
NM_130444.2:c.4215_4223del (COL18A1)	NP_569711.2:p.Gly1406_Pro1408del
NM_130445.3:c.2970_2978del (COL18A1)	NP_569712.2:p.Gly991_Pro993del
XM_011529707.1:c.1585-2278_1585-2270del (SLC19A1)	XP_011528009.1:n.1585-2278_1585-2270del
XM_017028445.2:c.1585-2278_1585-2270del (SLC19A1)	XP_016883934.1:n.1585-2278_1585-2270del
NM_030582.4:c.3510_3518del (COL18A1)	NP_085059.2:p.Gly1171_Pro1173del
NM_130444.3:c.4215_4223del (COL18A1)	NP_569711.2:p.Gly1406_Pro1408del
NM_130445.4:c.2970_2978del (COL18A1)	NP_569712.2:p.Gly991_Pro993del
NM_001379500.1:c.2979_2987del (COL18A1) MANE Select	NP_001366429.1:p.Gly994_Pro996del