Canonical Allele Identifier: CA2392190731

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504509_45504520delinsCCCGGCCCCCCA , CM000683.2:g.45504509_45504520delinsCCCGGCCCCCCA	GRCh38
NC_000021.8:g.46924423_46924434delinsCCCGGCCCCCCA , CM000683.1:g.46924423_46924434delinsCCCGGCCCCCCA	GRCh37
NC_000021.7:g.45748851_45748862delinsCCCGGCCCCCCA	NCBI36
NG_028278.2:g.63624_63635delinsTGGGGGGCCGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3361_3372delinsCCCGGCCCCCCA (COL18A1)	ENSP00000347665.5:p.Pro1121=
ENST00000651438.1:c.2821_2832delinsCCCGGCCCCCCA (COL18A1) MANE Select	ENSP00000498485.1:p.Pro941=
ENST00000342220.9:c.862_873delinsCCCGGCCCCCCA (COL18A1)	ENSP00000339118.5:p.Pro288=
ENST00000355480.9:c.3361_3372delinsCCCGGCCCCCCA (COL18A1)	ENSP00000347665.5:p.Pro1121=
ENST00000359759.8:c.4066_4077delinsCCCGGCCCCCCA (COL18A1)	ENSP00000352798.4:p.Pro1356=
ENST00000400337.6:c.2821_2832delinsCCCGGCCCCCCA (COL18A1)	ENSP00000383191.2:p.Pro941=
ENST00000417954.5:c.498-5908_498-5897delinsTGGGGGGCCGGG (SLC19A1)
ENST00000567670.5:c.1294-5908_1294-5897delinsTGGGGGGCCGGG (SLC19A1)	ENSP00000457278.1:n.1294-5908_1294-5897de...
NM_030582.3:c.3361_3372delinsCCCGGCCCCCCA (COL18A1)	NP_085059.2:p.Pro1121=
NM_130444.2:c.4066_4077delinsCCCGGCCCCCCA (COL18A1)	NP_569711.2:p.Pro1356=
NM_130445.3:c.2821_2832delinsCCCGGCCCCCCA (COL18A1)	NP_569712.2:p.Pro941=
XM_011529707.1:c.1585-1551_1585-1540delinsTGGGGGGCCGGG (SLC19A1)	XP_011528009.1:n.1585-1551_1585-1540delin...
XM_017028445.2:c.1585-1551_1585-1540delinsTGGGGGGCCGGG (SLC19A1)	XP_016883934.1:n.1585-1551_1585-1540delin...
NM_030582.4:c.3361_3372delinsCCCGGCCCCCCA (COL18A1)	NP_085059.2:p.Pro1121=
NM_130444.3:c.4066_4077delinsCCCGGCCCCCCA (COL18A1)	NP_569711.2:p.Pro1356=
NM_130445.4:c.2821_2832delinsCCCGGCCCCCCA (COL18A1)	NP_569712.2:p.Pro941=
NM_001379500.1:c.2821_2832delinsCCCGGCCCCCCA (COL18A1) MANE Select	NP_001366429.1:p.Pro941=