Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504877_45504878delinsGC , CM000683.2:g.45504877_45504878delinsGC	GRCh38
NC_000021.8:g.46924791_46924792delinsGC , CM000683.1:g.46924791_46924792delinsGC	GRCh37
NC_000021.7:g.45749219_45749220delinsGC	NCBI36
NG_011903.1:g.104686_104687delinsGC
NG_028278.2:g.63266_63267delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3409-257_3409-256delinsGC (COL18A1)	ENSP00000347665.5:n.3409-257_3409-256delinsGC
ENST00000651438.1:c.2869-257_2869-256delinsGC (COL18A1) MANE Select	ENSP00000498485.1:n.2869-257_2869-256delinsGC
ENST00000342220.9:c.910-257_910-256delinsGC (COL18A1)	ENSP00000339118.5:n.910-257_910-256delinsGC
ENST00000355480.9:c.3409-257_3409-256delinsGC (COL18A1)	ENSP00000347665.5:n.3409-257_3409-256delinsGC
ENST00000359759.8:c.4114-257_4114-256delinsGC (COL18A1)	ENSP00000352798.4:n.4114-257_4114-256delinsGC
ENST00000400337.6:c.2869-257_2869-256delinsGC (COL18A1)	ENSP00000383191.2:n.2869-257_2869-256delinsGC
ENST00000417954.5:c.498-6266_498-6265delinsGC (SLC19A1)
ENST00000567670.5:c.1294-6266_1294-6265delinsGC (SLC19A1)	ENSP00000457278.1:n.1294-6266_1294-6265delinsGC
NM_030582.3:c.3400-257_3400-256delinsGC (COL18A1)	NP_085059.2:n.3400-257_3400-256delinsGC
NM_130444.2:c.4105-257_4105-256delinsGC (COL18A1)	NP_569711.2:n.4105-257_4105-256delinsGC
NM_130445.3:c.2860-257_2860-256delinsGC (COL18A1)	NP_569712.2:n.2860-257_2860-256delinsGC
XM_011529707.1:c.1585-1909_1585-1908delinsGC (SLC19A1)	XP_011528009.1:n.1585-1909_1585-1908delinsGC
XM_017028445.2:c.1585-1909_1585-1908delinsGC (SLC19A1)	XP_016883934.1:n.1585-1909_1585-1908delinsGC
NM_030582.4:c.3400-257_3400-256delinsGC (COL18A1)	NP_085059.2:n.3400-257_3400-256delinsGC
NM_130444.3:c.4105-257_4105-256delinsGC (COL18A1)	NP_569711.2:n.4105-257_4105-256delinsGC
NM_130445.4:c.2860-257_2860-256delinsGC (COL18A1)	NP_569712.2:n.2860-257_2860-256delinsGC
NM_001379500.1:c.2869-257_2869-256delinsGC (COL18A1) MANE Select	NP_001366429.1:n.2869-257_2869-256delinsGC