Canonical Allele Identifier: CA2501862385

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45510956_45511061del , CM000683.2:g.45510956_45511061del	GRCh38
NC_000021.8:g.46930870_46930975del , CM000683.1:g.46930870_46930975del	GRCh37
NC_000021.7:g.45755298_45755403del	NCBI36
NG_011903.1:g.110765_110870del
NG_028278.2:g.57084_57189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4234-155_4234-50del (COL18A1)	ENSP00000347665.5:n.4234-155_4234-50del
ENST00000651438.1:c.3694-155_3694-50del (COL18A1) MANE Select	ENSP00000498485.1:n.3694-155_3694-50del
ENST00000342220.9:c.1738-155_1738-50del (COL18A1)	ENSP00000339118.5:n.1738-155_1738-50del
ENST00000355480.9:c.4234-155_4234-50del (COL18A1)	ENSP00000347665.5:n.4234-155_4234-50del
ENST00000359759.8:c.4939-155_4939-50del (COL18A1)	ENSP00000352798.4:n.4939-155_4939-50del
ENST00000400337.6:c.3694-155_3694-50del (COL18A1)	ENSP00000383191.2:n.3694-155_3694-50del
ENST00000417954.5:c.498-12448_498-12343del (SLC19A1)
ENST00000423214.1:c.648-155_648-50del (COL18A1)
ENST00000473212.1:n.2020-155_2020-50del (COL18A1)
ENST00000567670.5:c.1294-12448_1294-12343del (SLC19A1)	ENSP00000457278.1:n.1294-12448_1294-12343del
NM_030582.3:c.4225-155_4225-50del (COL18A1)	NP_085059.2:n.4225-155_4225-50del
NM_130444.2:c.4930-155_4930-50del (COL18A1)	NP_569711.2:n.4930-155_4930-50del
NM_130445.3:c.3685-155_3685-50del (COL18A1)	NP_569712.2:n.3685-155_3685-50del
XM_011529707.1:c.1585-8091_1585-7986del (SLC19A1)	XP_011528009.1:n.1585-8091_1585-7986del
XM_017028445.2:c.1585-8091_1585-7986del (SLC19A1)	XP_016883934.1:n.1585-8091_1585-7986del
NM_030582.4:c.4225-155_4225-50del (COL18A1)	NP_085059.2:n.4225-155_4225-50del
NM_130444.3:c.4930-155_4930-50del (COL18A1)	NP_569711.2:n.4930-155_4930-50del
NM_130445.4:c.3685-155_3685-50del (COL18A1)	NP_569712.2:n.3685-155_3685-50del
NM_001379500.1:c.3694-155_3694-50del (COL18A1) MANE Select	NP_001366429.1:n.3694-155_3694-50del