Canonical Allele Identifier: CA10067583

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs762697655
• ExAC: 21:46925149 A / AGGCCCCCC
• gnomAD v4: 21-45505235-A-AGGCCCCCC
• MyVariant Identifiers: chr21:g.46925158_46925159delinsGGCCCCCCAG (hg19) ; chr21:g.46925149_46925150insGGCCCCCC (hg19) ; chr21:g.45505235_45505236insGGCCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505236_45505243dup , CM000683.2:g.45505236_45505243dup	GRCh38
NC_000021.8:g.46925150_46925157dup , CM000683.1:g.46925150_46925157dup	GRCh37
NC_000021.7:g.45749578_45749585dup	NCBI36
NG_011903.1:g.105045_105052dup
NG_028278.2:g.62901_62908dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3511_3518dup (COL18A1)	ENSP00000347665.5:p.Gly1174AlafsTer?
ENST00000651438.1:c.2971_2978dup (COL18A1) MANE Select	ENSP00000498485.1:p.Gly994AlafsTer?
ENST00000342220.9:c.1012_1019dup (COL18A1)	ENSP00000339118.5:p.Gly341AlafsTer?
ENST00000355480.9:c.3511_3518dup (COL18A1)	ENSP00000347665.5:p.Gly1174AlafsTer?
ENST00000359759.8:c.4216_4223dup (COL18A1)	ENSP00000352798.4:p.Gly1409AlafsTer?
ENST00000400337.6:c.2971_2978dup (COL18A1)	ENSP00000383191.2:p.Gly994AlafsTer?
ENST00000417954.5:c.498-6631_498-6624dup (SLC19A1)
ENST00000567670.5:c.1294-6631_1294-6624dup (SLC19A1)	ENSP00000457278.1:n.1294-6631_1294-6624dup
NM_030582.3:c.3502_3509dup (COL18A1)	NP_085059.2:p.Gly1171AlafsTer?
NM_130444.2:c.4207_4214dup (COL18A1)	NP_569711.2:p.Gly1406AlafsTer?
NM_130445.3:c.2962_2969dup (COL18A1)	NP_569712.2:p.Gly991AlafsTer?
XM_011529707.1:c.1585-2274_1585-2267dup (SLC19A1)	XP_011528009.1:n.1585-2274_1585-2267dup
XM_017028445.2:c.1585-2274_1585-2267dup (SLC19A1)	XP_016883934.1:n.1585-2274_1585-2267dup
NM_030582.4:c.3502_3509dup (COL18A1)	NP_085059.2:p.Gly1171AlafsTer?
NM_130444.3:c.4207_4214dup (COL18A1)	NP_569711.2:p.Gly1406AlafsTer?
NM_130445.4:c.2962_2969dup (COL18A1)	NP_569712.2:p.Gly991AlafsTer?
NM_001379500.1:c.2971_2978dup (COL18A1) MANE Select	NP_001366429.1:p.Gly994AlafsTer?