Canonical Allele Identifier: CA2577627270

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511219_45511221del , CM000683.2:g.45511219_45511221del	GRCh38
NC_000021.8:g.46931133_46931135del , CM000683.1:g.46931133_46931135del	GRCh37
NC_000021.7:g.45755561_45755563del	NCBI36
NG_011903.1:g.111028_111030del
NG_028278.2:g.56924_56926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4342_4344del (COL18A1)	ENSP00000347665.5:p.Pro1448del
ENST00000651438.1:c.3802_3804del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro1268del
ENST00000342220.9:c.1846_1848del (COL18A1)	ENSP00000339118.5:p.Pro616del
ENST00000355480.9:c.4342_4344del (COL18A1)	ENSP00000347665.5:p.Pro1448del
ENST00000359759.8:c.5047_5049del (COL18A1)	ENSP00000352798.4:p.Pro1683del
ENST00000400337.6:c.3802_3804del (COL18A1)	ENSP00000383191.2:p.Pro1268del
ENST00000417954.5:c.498-12608_498-12606del (SLC19A1)
ENST00000423214.1:c.756_758del (COL18A1)
ENST00000473212.1:n.2128_2130del (COL18A1)
ENST00000567670.5:c.1294-12608_1294-12606del (SLC19A1)	ENSP00000457278.1:n.1294-12608_1294-12606del
NM_030582.3:c.4333_4335del (COL18A1)	NP_085059.2:p.Pro1445del
NM_130444.2:c.5038_5040del (COL18A1)	NP_569711.2:p.Pro1680del
NM_130445.3:c.3793_3795del (COL18A1)	NP_569712.2:p.Pro1265del
XM_011529707.1:c.1585-8251_1585-8249del (SLC19A1)	XP_011528009.1:n.1585-8251_1585-8249del
XM_017028445.2:c.1585-8251_1585-8249del (SLC19A1)	XP_016883934.1:n.1585-8251_1585-8249del
NM_030582.4:c.4333_4335del (COL18A1)	NP_085059.2:p.Pro1445del
NM_130444.3:c.5038_5040del (COL18A1)	NP_569711.2:p.Pro1680del
NM_130445.4:c.3793_3795del (COL18A1)	NP_569712.2:p.Pro1265del
NM_001379500.1:c.3802_3804del (COL18A1) MANE Select	NP_001366429.1:p.Pro1268del