Canonical Allele Identifier: CA2392191266

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505229_45505247delinsCCCCCCAGGCCCCCCAGGG , CM000683.2:g.45505229_45505247delinsCCCCCCAGGCCCCCCAGGG	GRCh38
NC_000021.8:g.46925143_46925161delinsCCCCCCAGGCCCCCCAGGG , CM000683.1:g.46925143_46925161delinsCCCCCCAGGCCCCCCAGGG	GRCh37
NC_000021.7:g.45749571_45749589delinsCCCCCCAGGCCCCCCAGGG	NCBI36
NG_011903.1:g.105038_105056delinsCCCCCCAGGCCCCCCAGGG
NG_028278.2:g.62897_62915delinsCCCTGGGGGGCCTGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3504_3522delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	ENSP00000347665.5:p.Gly1168=
ENST00000651438.1:c.2964_2982delinsCCCCCCAGGCCCCCCAGGG (COL18A1) MANE Select	ENSP00000498485.1:p.Gly988=
ENST00000342220.9:c.1005_1023delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	ENSP00000339118.5:p.Gly335=
ENST00000355480.9:c.3504_3522delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	ENSP00000347665.5:p.Gly1168=
ENST00000359759.8:c.4209_4227delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	ENSP00000352798.4:p.Gly1403=
ENST00000400337.6:c.2964_2982delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	ENSP00000383191.2:p.Gly988=
ENST00000417954.5:c.498-6635_498-6617delinsCCCTGGGGGGCCTGGGGGG (SLC19A1)
ENST00000567670.5:c.1294-6635_1294-6617delinsCCCTGGGGGGCCTGGGGGG (SLC19A1)	ENSP00000457278.1:n.1294-6635_1294-6617delinsCCCTGGGGGGCCTGGG...
NM_030582.3:c.3495_3513delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	NP_085059.2:p.Gly1165=
NM_130444.2:c.4200_4218delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	NP_569711.2:p.Gly1400=
NM_130445.3:c.2955_2973delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	NP_569712.2:p.Gly985=
XM_011529707.1:c.1585-2278_1585-2260delinsCCCTGGGGGGCCTGGGGGG (SLC19A1)	XP_011528009.1:n.1585-2278_1585-2260delinsCCCTGGGGGGCCTGGGGGG...
XM_017028445.2:c.1585-2278_1585-2260delinsCCCTGGGGGGCCTGGGGGG (SLC19A1)	XP_016883934.1:n.1585-2278_1585-2260delinsCCCTGGGGGGCCTGGGGGG...
NM_030582.4:c.3495_3513delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	NP_085059.2:p.Gly1165=
NM_130444.3:c.4200_4218delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	NP_569711.2:p.Gly1400=
NM_130445.4:c.2955_2973delinsCCCCCCAGGCCCCCCAGGG (COL18A1)	NP_569712.2:p.Gly985=
NM_001379500.1:c.2964_2982delinsCCCCCCAGGCCCCCCAGGG (COL18A1) MANE Select	NP_001366429.1:p.Gly988=