Canonical Allele Identifier: CA638497337
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

dbSNP Id: rs1345160374

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45504510_45504520del , CM000683.2:g.45504510_45504520del GRCh38
NC_000021.8:g.46924424_46924434del , CM000683.1:g.46924424_46924434del GRCh37
NC_000021.7:g.45748852_45748862del NCBI36
NG_028278.2:g.63624_63634del

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.3362_3372del (COL18A1) ENSP00000347665.5:p.Pro1121ArgfsTer?
ENST00000651438.1:c.2822_2832del (COL18A1) MANE Select ENSP00000498485.1:p.Pro941ArgfsTer?
ENST00000342220.9:c.863_873del (COL18A1) ENSP00000339118.5:p.Pro288ArgfsTer?
ENST00000355480.9:c.3362_3372del (COL18A1) ENSP00000347665.5:p.Pro1121ArgfsTer?
ENST00000359759.8:c.4067_4077del (COL18A1) ENSP00000352798.4:p.Pro1356ArgfsTer?
ENST00000400337.6:c.2822_2832del (COL18A1) ENSP00000383191.2:p.Pro941ArgfsTer?
ENST00000417954.5:c.498-5908_498-5898del (SLC19A1)
ENST00000567670.5:c.1294-5908_1294-5898del (SLC19A1) ENSP00000457278.1:n.1294-5908_1294-5898de...
NM_030582.3:c.3362_3372del (COL18A1) NP_085059.2:p.Pro1121ArgfsTer?
NM_130444.2:c.4067_4077del (COL18A1) NP_569711.2:p.Pro1356ArgfsTer?
NM_130445.3:c.2822_2832del (COL18A1) NP_569712.2:p.Pro941ArgfsTer?
XM_011529707.1:c.1585-1551_1585-1541del (SLC19A1) XP_011528009.1:n.1585-1551_1585-1541del
XM_017028445.2:c.1585-1551_1585-1541del (SLC19A1) XP_016883934.1:n.1585-1551_1585-1541del
NM_030582.4:c.3362_3372del (COL18A1) NP_085059.2:p.Pro1121ArgfsTer?
NM_130444.3:c.4067_4077del (COL18A1) NP_569711.2:p.Pro1356ArgfsTer?
NM_130445.4:c.2822_2832del (COL18A1) NP_569712.2:p.Pro941ArgfsTer?
NM_001379500.1:c.2822_2832del (COL18A1) MANE Select NP_001366429.1:p.Pro941ArgfsTer?