Canonical Allele Identifier: CA10067577

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 587462
• ClinVar RCV Id: RCV000714628 ; RCV001442641 ; RCV003403648
• dbSNP Id: rs759403198
• ExAC: 21:46925140 CGGCCCCCCA / C
• gnomAD v2: 21-46925140-CGGCCCCCCA-C
• gnomAD v3: 21-45505226-CGGCCCCCCA-C
• gnomAD v4: 21-45505226-CGGCCCCCCA-C
• COSMIC: COSM5146227 ; COSM5146228 ; COSM5694243
• MyVariant Identifiers: chr21:g.46925152_46925160del (hg19) ; chr21:g.46925141_46925149del (hg19) ; chr21:g.45505238_45505246del (hg38) ; chr21:g.45505228_45505236del (hg38) ; chr21:g.45505227_45505235del (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505238_45505246del , CM000683.2:g.45505238_45505246del	GRCh38
NC_000021.8:g.46925152_46925160del , CM000683.1:g.46925152_46925160del	GRCh37
NC_000021.7:g.45749580_45749588del	NCBI36
NG_011903.1:g.105047_105055del
NG_028278.2:g.62909_62917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3513_3521del (COL18A1)	ENSP00000347665.5:p.Pro1172_Gly1174del
ENST00000651438.1:c.2973_2981del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro992_Gly994del
ENST00000342220.9:c.1014_1022del (COL18A1)	ENSP00000339118.5:p.Pro339_Gly341del
ENST00000355480.9:c.3513_3521del (COL18A1)	ENSP00000347665.5:p.Pro1172_Gly1174del
ENST00000359759.8:c.4218_4226del (COL18A1)	ENSP00000352798.4:p.Pro1407_Gly1409del
ENST00000400337.6:c.2973_2981del (COL18A1)	ENSP00000383191.2:p.Pro992_Gly994del
ENST00000417954.5:c.498-6623_498-6615del (SLC19A1)
ENST00000567670.5:c.1294-6623_1294-6615del (SLC19A1)	ENSP00000457278.1:n.1294-6623_1294-6615del
NM_030582.3:c.3504_3512del (COL18A1)	NP_085059.2:p.Pro1169_Gly1171del
NM_130444.2:c.4209_4217del (COL18A1)	NP_569711.2:p.Pro1404_Gly1406del
NM_130445.3:c.2964_2972del (COL18A1)	NP_569712.2:p.Pro989_Gly991del
XM_011529707.1:c.1585-2266_1585-2258del (SLC19A1)	XP_011528009.1:n.1585-2266_1585-2258del
XM_017028445.2:c.1585-2266_1585-2258del (SLC19A1)	XP_016883934.1:n.1585-2266_1585-2258del
NM_030582.4:c.3504_3512del (COL18A1)	NP_085059.2:p.Pro1169_Gly1171del
NM_130444.3:c.4209_4217del (COL18A1)	NP_569711.2:p.Pro1404_Gly1406del
NM_130445.4:c.2964_2972del (COL18A1)	NP_569712.2:p.Pro989_Gly991del
NM_001379500.1:c.2973_2981del (COL18A1) MANE Select	NP_001366429.1:p.Pro992_Gly994del