Canonical Allele Identifier: CA2392191253

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505217_45505226delinsGGGCCCTCCC , CM000683.2:g.45505217_45505226delinsGGGCCCTCCC	GRCh38
NC_000021.8:g.46925131_46925140delinsGGGCCCTCCC , CM000683.1:g.46925131_46925140delinsGGGCCCTCCC	GRCh37
NC_000021.7:g.45749559_45749568delinsGGGCCCTCCC	NCBI36
NG_011903.1:g.105026_105035delinsGGGCCCTCCC
NG_028278.2:g.62918_62927delinsGGGAGGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3492_3501delinsGGGCCCTCCC (COL18A1)	ENSP00000347665.5:p.Gln1164=
ENST00000651438.1:c.2952_2961delinsGGGCCCTCCC (COL18A1) MANE Select	ENSP00000498485.1:p.Gln984=
ENST00000342220.9:c.993_1002delinsGGGCCCTCCC (COL18A1)	ENSP00000339118.5:p.Gln331=
ENST00000355480.9:c.3492_3501delinsGGGCCCTCCC (COL18A1)	ENSP00000347665.5:p.Gln1164=
ENST00000359759.8:c.4197_4206delinsGGGCCCTCCC (COL18A1)	ENSP00000352798.4:p.Gln1399=
ENST00000400337.6:c.2952_2961delinsGGGCCCTCCC (COL18A1)	ENSP00000383191.2:p.Gln984=
ENST00000417954.5:c.498-6614_498-6605delinsGGGAGGGCCC (SLC19A1)
ENST00000567670.5:c.1294-6614_1294-6605delinsGGGAGGGCCC (SLC19A1)	ENSP00000457278.1:n.1294-6614_1294-6605delinsGGGAGGGCCC
NM_030582.3:c.3483_3492delinsGGGCCCTCCC (COL18A1)	NP_085059.2:p.Gln1161=
NM_130444.2:c.4188_4197delinsGGGCCCTCCC (COL18A1)	NP_569711.2:p.Gln1396=
NM_130445.3:c.2943_2952delinsGGGCCCTCCC (COL18A1)	NP_569712.2:p.Gln981=
XM_011529707.1:c.1585-2257_1585-2248delinsGGGAGGGCCC (SLC19A1)	XP_011528009.1:n.1585-2257_1585-2248delinsGGGAGGGCCC
XM_017028445.2:c.1585-2257_1585-2248delinsGGGAGGGCCC (SLC19A1)	XP_016883934.1:n.1585-2257_1585-2248delinsGGGAGGGCCC
NM_030582.4:c.3483_3492delinsGGGCCCTCCC (COL18A1)	NP_085059.2:p.Gln1161=
NM_130444.3:c.4188_4197delinsGGGCCCTCCC (COL18A1)	NP_569711.2:p.Gln1396=
NM_130445.4:c.2943_2952delinsGGGCCCTCCC (COL18A1)	NP_569712.2:p.Gln981=
NM_001379500.1:c.2952_2961delinsGGGCCCTCCC (COL18A1) MANE Select	NP_001366429.1:p.Gln984=