Canonical Allele Identifier: CA2392196119

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs2037609138

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511541_45511544del , CM000683.2:g.45511541_45511544del	GRCh38
NC_000021.8:g.46931455_46931458del , CM000683.1:g.46931455_46931458del	GRCh37
NC_000021.7:g.45755883_45755886del	NCBI36
NG_011903.1:g.111350_111353del
NG_028278.2:g.56600_56603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4349+315_4349+318del (COL18A1)	ENSP00000347665.5:n.4349+315_4349+318del
ENST00000651438.1:c.3809+315_3809+318del (COL18A1) MANE Select	ENSP00000498485.1:n.3809+315_3809+318del
ENST00000342220.9:c.1853+315_1853+318del (COL18A1)	ENSP00000339118.5:n.1853+315_1853+318del
ENST00000355480.9:c.4349+315_4349+318del (COL18A1)	ENSP00000347665.5:n.4349+315_4349+318del
ENST00000359759.8:c.5054+315_5054+318del (COL18A1)	ENSP00000352798.4:n.5054+315_5054+318del
ENST00000400337.6:c.3809+315_3809+318del (COL18A1)	ENSP00000383191.2:n.3809+315_3809+318del
ENST00000417954.5:c.498-12932_498-12929del (SLC19A1)
ENST00000423214.1:c.763+315_763+318del (COL18A1)
ENST00000473212.1:n.2135+315_2135+318del (COL18A1)
ENST00000567670.5:c.1294-12932_1294-12929del (SLC19A1)	ENSP00000457278.1:n.1294-12932_1294-12929del
NM_030582.3:c.4340+315_4340+318del (COL18A1)	NP_085059.2:n.4340+315_4340+318del
NM_130444.2:c.5045+315_5045+318del (COL18A1)	NP_569711.2:n.5045+315_5045+318del
NM_130445.3:c.3800+315_3800+318del (COL18A1)	NP_569712.2:n.3800+315_3800+318del
XM_011529707.1:c.1585-8575_1585-8572del (SLC19A1)	XP_011528009.1:n.1585-8575_1585-8572del
XM_017028445.2:c.1585-8575_1585-8572del (SLC19A1)	XP_016883934.1:n.1585-8575_1585-8572del
NM_030582.4:c.4340+315_4340+318del (COL18A1)	NP_085059.2:n.4340+315_4340+318del
NM_130444.3:c.5045+315_5045+318del (COL18A1)	NP_569711.2:n.5045+315_5045+318del
NM_130445.4:c.3800+315_3800+318del (COL18A1)	NP_569712.2:n.3800+315_3800+318del
NM_001379500.1:c.3809+315_3809+318del (COL18A1) MANE Select	NP_001366429.1:n.3809+315_3809+318del