Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504899_45504900delinsTG , CM000683.2:g.45504899_45504900delinsTG	GRCh38
NC_000021.8:g.46924813_46924814delinsTG , CM000683.1:g.46924813_46924814delinsTG	GRCh37
NC_000021.7:g.45749241_45749242delinsTG	NCBI36
NG_011903.1:g.104708_104709delinsTG
NG_028278.2:g.63244_63245delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3409-235_3409-234delinsTG (COL18A1)	ENSP00000347665.5:n.3409-235_3409-234delinsTG
ENST00000651438.1:c.2869-235_2869-234delinsTG (COL18A1) MANE Select	ENSP00000498485.1:n.2869-235_2869-234delinsTG
ENST00000342220.9:c.910-235_910-234delinsTG (COL18A1)	ENSP00000339118.5:n.910-235_910-234delinsTG
ENST00000355480.9:c.3409-235_3409-234delinsTG (COL18A1)	ENSP00000347665.5:n.3409-235_3409-234delinsTG
ENST00000359759.8:c.4114-235_4114-234delinsTG (COL18A1)	ENSP00000352798.4:n.4114-235_4114-234delinsTG
ENST00000400337.6:c.2869-235_2869-234delinsTG (COL18A1)	ENSP00000383191.2:n.2869-235_2869-234delinsTG
ENST00000417954.5:c.498-6288_498-6287delinsCA (SLC19A1)
ENST00000567670.5:c.1294-6288_1294-6287delinsCA (SLC19A1)	ENSP00000457278.1:n.1294-6288_1294-6287delinsCA
NM_030582.3:c.3400-235_3400-234delinsTG (COL18A1)	NP_085059.2:n.3400-235_3400-234delinsTG
NM_130444.2:c.4105-235_4105-234delinsTG (COL18A1)	NP_569711.2:n.4105-235_4105-234delinsTG
NM_130445.3:c.2860-235_2860-234delinsTG (COL18A1)	NP_569712.2:n.2860-235_2860-234delinsTG
XM_011529707.1:c.1585-1931_1585-1930delinsCA (SLC19A1)	XP_011528009.1:n.1585-1931_1585-1930delinsCA
XM_017028445.2:c.1585-1931_1585-1930delinsCA (SLC19A1)	XP_016883934.1:n.1585-1931_1585-1930delinsCA
NM_030582.4:c.3400-235_3400-234delinsTG (COL18A1)	NP_085059.2:n.3400-235_3400-234delinsTG
NM_130444.3:c.4105-235_4105-234delinsTG (COL18A1)	NP_569711.2:n.4105-235_4105-234delinsTG
NM_130445.4:c.2860-235_2860-234delinsTG (COL18A1)	NP_569712.2:n.2860-235_2860-234delinsTG
NM_001379500.1:c.2869-235_2869-234delinsTG (COL18A1) MANE Select	NP_001366429.1:n.2869-235_2869-234delinsTG