Canonical Allele Identifier: CA2392196218

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511698_45511700delinsACT , CM000683.2:g.45511698_45511700delinsACT	GRCh38
NC_000021.8:g.46931612_46931614delinsACT , CM000683.1:g.46931612_46931614delinsACT	GRCh37
NC_000021.7:g.45756040_45756042delinsACT	NCBI36
NG_011903.1:g.111507_111509delinsACT
NG_028278.2:g.56444_56446delinsAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4349+472_4349+474delinsACT (COL18A1)	ENSP00000347665.5:n.4349+472_4349+474deli...
ENST00000651438.1:c.3809+472_3809+474delinsACT (COL18A1) MANE Select	ENSP00000498485.1:n.3809+472_3809+474deli...
ENST00000342220.9:c.1853+472_1853+474delinsACT (COL18A1)	ENSP00000339118.5:n.1853+472_1853+474deli...
ENST00000355480.9:c.4349+472_4349+474delinsACT (COL18A1)	ENSP00000347665.5:n.4349+472_4349+474deli...
ENST00000359759.8:c.5054+472_5054+474delinsACT (COL18A1)	ENSP00000352798.4:n.5054+472_5054+474deli...
ENST00000400337.6:c.3809+472_3809+474delinsACT (COL18A1)	ENSP00000383191.2:n.3809+472_3809+474deli...
ENST00000417954.5:c.498-13088_498-13086delinsAGT (SLC19A1)
ENST00000423214.1:c.763+472_763+474delinsACT (COL18A1)
ENST00000473212.1:n.2135+472_2135+474delinsACT (COL18A1)
ENST00000567670.5:c.1294-13088_1294-13086delinsAGT (SLC19A1)	ENSP00000457278.1:n.1294-13088_1294-13086...
NM_030582.3:c.4340+472_4340+474delinsACT (COL18A1)	NP_085059.2:n.4340+472_4340+474delinsACT
NM_130444.2:c.5045+472_5045+474delinsACT (COL18A1)	NP_569711.2:n.5045+472_5045+474delinsACT
NM_130445.3:c.3800+472_3800+474delinsACT (COL18A1)	NP_569712.2:n.3800+472_3800+474delinsACT
XM_011529707.1:c.1585-8731_1585-8729delinsAGT (SLC19A1)	XP_011528009.1:n.1585-8731_1585-8729delin...
XM_017028445.2:c.1585-8731_1585-8729delinsAGT (SLC19A1)	XP_016883934.1:n.1585-8731_1585-8729delin...
NM_030582.4:c.4340+472_4340+474delinsACT (COL18A1)	NP_085059.2:n.4340+472_4340+474delinsACT
NM_130444.3:c.5045+472_5045+474delinsACT (COL18A1)	NP_569711.2:n.5045+472_5045+474delinsACT
NM_130445.4:c.3800+472_3800+474delinsACT (COL18A1)	NP_569712.2:n.3800+472_3800+474delinsACT
NM_001379500.1:c.3809+472_3809+474delinsACT (COL18A1) MANE Select	NP_001366429.1:n.3809+472_3809+474delinsA...