Canonical Allele Identifier: CA2737718785
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

dbSNP Id: rs2146075239
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45504525_45504534del , CM000683.2:g.45504525_45504534del GRCh38
NC_000021.8:g.46924439_46924448del , CM000683.1:g.46924439_46924448del GRCh37
NC_000021.7:g.45748867_45748876del NCBI36
NG_011903.1:g.104334_104343del
NG_028278.2:g.63612_63621del

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.3377_3386del (COL18A1) ENSP00000347665.5:p.Pro1126HisfsTer?
ENST00000651438.1:c.2837_2846del (COL18A1) MANE Select ENSP00000498485.1:p.Pro946HisfsTer?
ENST00000342220.9:c.878_887del (COL18A1) ENSP00000339118.5:p.Pro293HisfsTer?
ENST00000355480.9:c.3377_3386del (COL18A1) ENSP00000347665.5:p.Pro1126HisfsTer?
ENST00000359759.8:c.4082_4091del (COL18A1) ENSP00000352798.4:p.Pro1361HisfsTer?
ENST00000400337.6:c.2837_2846del (COL18A1) ENSP00000383191.2:p.Pro946HisfsTer?
ENST00000417954.5:c.498-5920_498-5911del (SLC19A1)
ENST00000567670.5:c.1294-5920_1294-5911del (SLC19A1) ENSP00000457278.1:n.1294-5920_1294-5911de...
XM_011529707.1:c.1585-1563_1585-1554del (SLC19A1) XP_011528009.1:n.1585-1563_1585-1554del
XM_017028445.2:c.1585-1563_1585-1554del (SLC19A1) XP_016883934.1:n.1585-1563_1585-1554del
NM_001379500.1:c.2837_2846del (COL18A1) MANE Select NP_001366429.1:p.Pro946HisfsTer?
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