Canonical Allele Identifier: CA2695230316

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505252_45505261del , CM000683.2:g.45505252_45505261del	GRCh38
NC_000021.8:g.46925166_46925175del , CM000683.1:g.46925166_46925175del	GRCh37
NC_000021.7:g.45749594_45749603del	NCBI36
NG_011903.1:g.105061_105070del
NG_028278.2:g.62885_62894del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3527_3536del (COL18A1)	ENSP00000347665.5:p.Pro1176LeufsTer?
ENST00000651438.1:c.2987_2996del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro996LeufsTer?
ENST00000342220.9:c.1028_1037del (COL18A1)	ENSP00000339118.5:p.Pro343LeufsTer?
ENST00000355480.9:c.3527_3536del (COL18A1)	ENSP00000347665.5:p.Pro1176LeufsTer?
ENST00000359759.8:c.4232_4241del (COL18A1)	ENSP00000352798.4:p.Pro1411LeufsTer?
ENST00000400337.6:c.2987_2996del (COL18A1)	ENSP00000383191.2:p.Pro996LeufsTer?
ENST00000417954.5:c.498-6647_498-6638del (SLC19A1)
ENST00000567670.5:c.1294-6647_1294-6638del (SLC19A1)	ENSP00000457278.1:n.1294-6647_1294-6638del
NM_030582.3:c.3518_3527del (COL18A1)	NP_085059.2:p.Pro1173LeufsTer?
NM_130444.2:c.4223_4232del (COL18A1)	NP_569711.2:p.Pro1408LeufsTer?
NM_130445.3:c.2978_2987del (COL18A1)	NP_569712.2:p.Pro993LeufsTer?
XM_011529707.1:c.1585-2290_1585-2281del (SLC19A1)	XP_011528009.1:n.1585-2290_1585-2281del
XM_017028445.2:c.1585-2290_1585-2281del (SLC19A1)	XP_016883934.1:n.1585-2290_1585-2281del
NM_030582.4:c.3518_3527del (COL18A1)	NP_085059.2:p.Pro1173LeufsTer?
NM_130444.3:c.4223_4232del (COL18A1)	NP_569711.2:p.Pro1408LeufsTer?
NM_130445.4:c.2978_2987del (COL18A1)	NP_569712.2:p.Pro993LeufsTer?
NM_001379500.1:c.2987_2996del (COL18A1) MANE Select	NP_001366429.1:p.Pro996LeufsTer?