Canonical Allele Identifier: CA638167711

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v2: 21-46923920-TGCAGG-T
• gnomAD v3: 21-45504006-TGCAGG-T
• gnomAD v4: 21-45504006-TGCAGG-T
• MyVariant Identifiers: chr21:g.46923921_46923925del (hg19) ; chr21:g.45504007_45504011del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504011_45504015del , CM000683.2:g.45504011_45504015del	GRCh38
NC_000021.8:g.46923925_46923929del , CM000683.1:g.46923925_46923929del	GRCh37
NC_000021.7:g.45748353_45748357del	NCBI36
NG_011903.1:g.103829_103833del
NG_028278.2:g.64133_64137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3224_3228del (COL18A1)
ENST00000651438.1:c.2684_2688del (COL18A1)
ENST00000342220.9:c.725_729del (COL18A1)
ENST00000355480.9:c.3224_3228del (COL18A1)
ENST00000359759.8:c.3929_3933del (COL18A1)
ENST00000400337.6:c.2684_2688del (COL18A1)
ENST00000417954.5:c.498-5399_498-5395del (SLC19A1)
ENST00000461785.1:n.111_115del (SLC19A1)
ENST00000567670.5:c.1294-5399_1294-5395del (SLC19A1)	ENSP00000457278.1:n.1294-5399_1294-5395del
NM_030582.3:c.3224_3228del (COL18A1)
NM_130444.2:c.3929_3933del (COL18A1)
NM_130445.3:c.2684_2688del (COL18A1)
XM_011529707.1:c.1585-1042_1585-1038del (SLC19A1)	XP_011528009.1:n.1585-1042_1585-1038del
XM_017028445.2:c.1585-1042_1585-1038del (SLC19A1)	XP_016883934.1:n.1585-1042_1585-1038del
NM_030582.4:c.3224_3228del (COL18A1)
NM_130444.3:c.3929_3933del (COL18A1)
NM_130445.4:c.2684_2688del (COL18A1)
NM_001379500.1:c.2684_2688del (COL18A1)