Canonical Allele Identifier: CA10067492

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 803638
• ClinVar RCV Id: RCV000990362 ; RCV001511991
• dbSNP Id: rs78227997
• ExAC: 21:46924425 CGGCCCCCCAGGCCCCCCA / C
• gnomAD v2: 21-46924425-CGGCCCCCCAGGCCCCCCA-C
• gnomAD v3: 21-45504511-CGGCCCCCCAGGCCCCCCA-C
• gnomAD v4: 21-45504511-CGGCCCCCCAGGCCCCCCA-C
• MyVariant Identifiers: chr21:g.46924426_46924443del (hg19) ; chr21:g.45504512_45504529del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504517_45504534del , CM000683.2:g.45504517_45504534del	GRCh38
NC_000021.8:g.46924431_46924448del , CM000683.1:g.46924431_46924448del	GRCh37
NC_000021.7:g.45748859_45748876del	NCBI36
NG_028278.2:g.63615_63632del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3369_3386del (COL18A1)	ENSP00000347665.5:p.Pro1124_Pro1129del
ENST00000651438.1:c.2829_2846del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro944_Pro949del
ENST00000342220.9:c.870_887del (COL18A1)	ENSP00000339118.5:p.Pro291_Pro296del
ENST00000355480.9:c.3369_3386del (COL18A1)	ENSP00000347665.5:p.Pro1124_Pro1129del
ENST00000359759.8:c.4074_4091del (COL18A1)	ENSP00000352798.4:p.Pro1359_Pro1364del
ENST00000400337.6:c.2829_2846del (COL18A1)	ENSP00000383191.2:p.Pro944_Pro949del
ENST00000417954.5:c.498-5917_498-5900del (SLC19A1)
ENST00000567670.5:c.1294-5917_1294-5900del (SLC19A1)	ENSP00000457278.1:n.1294-5917_1294-5900de...
XM_011529707.1:c.1585-1560_1585-1543del (SLC19A1)	XP_011528009.1:n.1585-1560_1585-1543del
XM_017028445.2:c.1585-1560_1585-1543del (SLC19A1)	XP_016883934.1:n.1585-1560_1585-1543del
NM_001379500.1:c.2829_2846del (COL18A1) MANE Select	NP_001366429.1:p.Pro944_Pro949del