Canonical Allele Identifier: CA638497342

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs1223479217
• gnomAD v2: 21-46924444-GGCC-G
• gnomAD v3: 21-45504530-GGCC-G
• gnomAD v4: 21-45504530-GGCC-G
• MyVariant Identifiers: chr21:g.46924445_46924447del (hg19) ; chr21:g.45504531_45504533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504531_45504533del , CM000683.2:g.45504531_45504533del	GRCh38
NC_000021.8:g.46924445_46924447del , CM000683.1:g.46924445_46924447del	GRCh37
NC_000021.7:g.45748873_45748875del	NCBI36
NG_011903.1:g.104340_104342del
NG_028278.2:g.63611_63613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3383_3385del (COL18A1)	ENSP00000347665.5:p.Gly1128_Pro1129delinsAla
ENST00000651438.1:c.2843_2845del (COL18A1) MANE Select	ENSP00000498485.1:p.Gly948_Pro949delinsAla
ENST00000342220.9:c.884_886del (COL18A1)	ENSP00000339118.5:p.Gly295_Pro296delinsAla
ENST00000355480.9:c.3383_3385del (COL18A1)	ENSP00000347665.5:p.Gly1128_Pro1129delinsAla
ENST00000359759.8:c.4088_4090del (COL18A1)	ENSP00000352798.4:p.Gly1363_Pro1364delinsAla
ENST00000400337.6:c.2843_2845del (COL18A1)	ENSP00000383191.2:p.Gly948_Pro949delinsAla
ENST00000417954.5:c.498-5921_498-5919del (SLC19A1)
ENST00000567670.5:c.1294-5921_1294-5919del (SLC19A1)	ENSP00000457278.1:n.1294-5921_1294-5919del
XM_011529707.1:c.1585-1564_1585-1562del (SLC19A1)	XP_011528009.1:n.1585-1564_1585-1562del
XM_017028445.2:c.1585-1564_1585-1562del (SLC19A1)	XP_016883934.1:n.1585-1564_1585-1562del
NM_001379500.1:c.2843_2845del (COL18A1) MANE Select	NP_001366429.1:p.Gly948_Pro949delinsAla