Canonical Allele Identifier: CA2392191226

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1416390
• ClinVar RCV Id: RCV001921239
• dbSNP Id: rs2037118140
• gnomAD v4: 21-45505187-ACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505192_45505243del , CM000683.2:g.45505192_45505243del	GRCh38
NC_000021.8:g.46925106_46925157del , CM000683.1:g.46925106_46925157del	GRCh37
NC_000021.7:g.45749534_45749585del	NCBI36
NG_011903.1:g.105001_105052del
NG_028278.2:g.62905_62956del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3467_3518del (COL18A1)	ENSP00000347665.5:p.Pro1156GlnfsTer?
ENST00000651438.1:c.2927_2978del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro976GlnfsTer?
ENST00000342220.9:c.968_1019del (COL18A1)	ENSP00000339118.5:p.Pro323GlnfsTer?
ENST00000355480.9:c.3467_3518del (COL18A1)	ENSP00000347665.5:p.Pro1156GlnfsTer?
ENST00000359759.8:c.4172_4223del (COL18A1)	ENSP00000352798.4:p.Pro1391GlnfsTer?
ENST00000400337.6:c.2927_2978del (COL18A1)	ENSP00000383191.2:p.Pro976GlnfsTer?
ENST00000417954.5:c.498-6627_498-6576del (SLC19A1)
ENST00000567670.5:c.1294-6627_1294-6576del (SLC19A1)	ENSP00000457278.1:n.1294-6627_1294-6576del
NM_030582.3:c.3458_3509del (COL18A1)	NP_085059.2:p.Pro1153GlnfsTer?
NM_130444.2:c.4163_4214del (COL18A1)	NP_569711.2:p.Pro1388GlnfsTer?
NM_130445.3:c.2918_2969del (COL18A1)	NP_569712.2:p.Pro973GlnfsTer?
XM_011529707.1:c.1585-2270_1585-2219del (SLC19A1)	XP_011528009.1:n.1585-2270_1585-2219del
XM_017028445.2:c.1585-2270_1585-2219del (SLC19A1)	XP_016883934.1:n.1585-2270_1585-2219del
NM_030582.4:c.3458_3509del (COL18A1)	NP_085059.2:p.Pro1153GlnfsTer?
NM_130444.3:c.4163_4214del (COL18A1)	NP_569711.2:p.Pro1388GlnfsTer?
NM_130445.4:c.2918_2969del (COL18A1)	NP_569712.2:p.Pro973GlnfsTer?
NM_001379500.1:c.2927_2978del (COL18A1) MANE Select	NP_001366429.1:p.Pro976GlnfsTer?