Canonical Allele Identifier: CA2392194810

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45509894_45509895delinsGC , CM000683.2:g.45509894_45509895delinsGC	GRCh38
NC_000021.8:g.46929808_46929809delinsGC , CM000683.1:g.46929808_46929809delinsGC	GRCh37
NC_000021.7:g.45754236_45754237delinsGC	NCBI36
NG_011903.1:g.109703_109704delinsGC
NG_028278.2:g.58249_58250delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4036-170_4036-169delinsGC (COL18A1)	ENSP00000347665.5:n.4036-170_4036-169delinsGC
ENST00000651438.1:c.3496-170_3496-169delinsGC (COL18A1) MANE Select	ENSP00000498485.1:n.3496-170_3496-169delinsGC
ENST00000342220.9:c.1540-170_1540-169delinsGC (COL18A1)	ENSP00000339118.5:n.1540-170_1540-169delinsGC
ENST00000355480.9:c.4036-170_4036-169delinsGC (COL18A1)	ENSP00000347665.5:n.4036-170_4036-169delinsGC
ENST00000359759.8:c.4741-170_4741-169delinsGC (COL18A1)	ENSP00000352798.4:n.4741-170_4741-169delinsGC
ENST00000400337.6:c.3496-170_3496-169delinsGC (COL18A1)	ENSP00000383191.2:n.3496-170_3496-169delinsGC
ENST00000417954.5:c.498-11283_498-11282delinsGC (SLC19A1)
ENST00000423214.1:c.450-170_450-169delinsGC (COL18A1)
ENST00000473212.1:n.1822-170_1822-169delinsGC (COL18A1)
ENST00000567670.5:c.1294-11283_1294-11282delinsGC (SLC19A1)	ENSP00000457278.1:n.1294-11283_1294-11282delinsGC
NM_030582.3:c.4027-170_4027-169delinsGC (COL18A1)	NP_085059.2:n.4027-170_4027-169delinsGC
NM_130444.2:c.4732-170_4732-169delinsGC (COL18A1)	NP_569711.2:n.4732-170_4732-169delinsGC
NM_130445.3:c.3487-170_3487-169delinsGC (COL18A1)	NP_569712.2:n.3487-170_3487-169delinsGC
XM_011529707.1:c.1585-6926_1585-6925delinsGC (SLC19A1)	XP_011528009.1:n.1585-6926_1585-6925delinsGC
XM_017028445.2:c.1585-6926_1585-6925delinsGC (SLC19A1)	XP_016883934.1:n.1585-6926_1585-6925delinsGC
NM_030582.4:c.4027-170_4027-169delinsGC (COL18A1)	NP_085059.2:n.4027-170_4027-169delinsGC
NM_130444.3:c.4732-170_4732-169delinsGC (COL18A1)	NP_569711.2:n.4732-170_4732-169delinsGC
NM_130445.4:c.3487-170_3487-169delinsGC (COL18A1)	NP_569712.2:n.3487-170_3487-169delinsGC
NM_001379500.1:c.3496-170_3496-169delinsGC (COL18A1) MANE Select	NP_001366429.1:n.3496-170_3496-169delinsGC