Canonical Allele Identifier: CA10067574
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2414821
ClinVar RCV Id: RCV003108656
dbSNP Id: rs776751637
ExAC: 21:46925137 TCCCGGCCCC / T
gnomAD v2: 21-46925137-TCCCGGCCCC-T
gnomAD v3: 21-45505223-TCCCGGCCCC-T
gnomAD v4: 21-45505223-TCCCGGCCCC-T
MyVariant Identifiers: chr21:g.46925138_46925146del (hg19) chr21:g.45505224_45505232del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45505226_45505234del , CM000683.2:g.45505226_45505234del GRCh38
NC_000021.8:g.46925140_46925148del , CM000683.1:g.46925140_46925148del GRCh37
NC_000021.7:g.45749568_45749576del NCBI36
NG_011903.1:g.105035_105043del
NG_028278.2:g.62912_62920del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.3501_3509del (COL18A1) ENSP00000347665.5:p.Gly1168_Pro1170del
ENST00000651438.1:c.2961_2969del (COL18A1) MANE Select ENSP00000498485.1:p.Gly988_Pro990del
ENST00000342220.9:c.1002_1010del (COL18A1) ENSP00000339118.5:p.Gly335_Pro337del
ENST00000355480.9:c.3501_3509del (COL18A1) ENSP00000347665.5:p.Gly1168_Pro1170del
ENST00000359759.8:c.4206_4214del (COL18A1) ENSP00000352798.4:p.Gly1403_Pro1405del
ENST00000400337.6:c.2961_2969del (COL18A1) ENSP00000383191.2:p.Gly988_Pro990del
ENST00000417954.5:c.498-6620_498-6612del (SLC19A1)
ENST00000567670.5:c.1294-6620_1294-6612del (SLC19A1) ENSP00000457278.1:n.1294-6620_1294-6612del
NM_030582.3:c.3492_3500del (COL18A1) NP_085059.2:p.Gly1165_Pro1167del
NM_130444.2:c.4197_4205del (COL18A1) NP_569711.2:p.Gly1400_Pro1402del
NM_130445.3:c.2952_2960del (COL18A1) NP_569712.2:p.Gly985_Pro987del
XM_011529707.1:c.1585-2263_1585-2255del (SLC19A1) XP_011528009.1:n.1585-2263_1585-2255del
XM_017028445.2:c.1585-2263_1585-2255del (SLC19A1) XP_016883934.1:n.1585-2263_1585-2255del
NM_030582.4:c.3492_3500del (COL18A1) NP_085059.2:p.Gly1165_Pro1167del
NM_130444.3:c.4197_4205del (COL18A1) NP_569711.2:p.Gly1400_Pro1402del
NM_130445.4:c.2952_2960del (COL18A1) NP_569712.2:p.Gly985_Pro987del
NM_001379500.1:c.2961_2969del (COL18A1) MANE Select NP_001366429.1:p.Gly988_Pro990del
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