Canonical Allele Identifier: CA2499225986

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45509416_45509417delinsTG , CM000683.2:g.45509416_45509417delinsTG	GRCh38
NC_000021.8:g.46929330_46929331delinsTG , CM000683.1:g.46929330_46929331delinsTG	GRCh37
NC_000021.7:g.45753758_45753759delinsTG	NCBI36
NG_011903.1:g.109225_109226delinsTG
NG_028278.2:g.58727_58728delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3850_3851delinsTG (COL18A1)	ENSP00000347665.5:p.Pro1284Trp
ENST00000651438.1:c.3310_3311delinsTG (COL18A1) MANE Select	ENSP00000498485.1:p.Pro1104Trp
ENST00000342220.9:c.1354_1355delinsTG (COL18A1)	ENSP00000339118.5:p.Pro452Trp
ENST00000355480.9:c.3850_3851delinsTG (COL18A1)	ENSP00000347665.5:p.Pro1284Trp
ENST00000359759.8:c.4555_4556delinsTG (COL18A1)	ENSP00000352798.4:p.Pro1519Trp
ENST00000400337.6:c.3310_3311delinsTG (COL18A1)	ENSP00000383191.2:p.Pro1104Trp
ENST00000417954.5:c.498-10805_498-10804delinsCA (SLC19A1)
ENST00000423214.1:c.264_265delinsTG (COL18A1)
ENST00000473212.1:n.1636_1637delinsTG (COL18A1)
ENST00000567670.5:c.1294-10805_1294-10804delinsCA (SLC19A1)	ENSP00000457278.1:n.1294-10805_1294-10804delinsCA
NM_030582.3:c.3841_3842delinsTG (COL18A1)	NP_085059.2:p.Pro1281Trp
NM_130444.2:c.4546_4547delinsTG (COL18A1)	NP_569711.2:p.Pro1516Trp
NM_130445.3:c.3301_3302delinsTG (COL18A1)	NP_569712.2:p.Pro1101Trp
XM_011529707.1:c.1585-6448_1585-6447delinsCA (SLC19A1)	XP_011528009.1:n.1585-6448_1585-6447delinsCA
XM_017028445.2:c.1585-6448_1585-6447delinsCA (SLC19A1)	XP_016883934.1:n.1585-6448_1585-6447delinsCA
NM_030582.4:c.3841_3842delinsTG (COL18A1)	NP_085059.2:p.Pro1281Trp
NM_130444.3:c.4546_4547delinsTG (COL18A1)	NP_569711.2:p.Pro1516Trp
NM_130445.4:c.3301_3302delinsTG (COL18A1)	NP_569712.2:p.Pro1101Trp
NM_001379500.1:c.3310_3311delinsTG (COL18A1) MANE Select	NP_001366429.1:p.Pro1104Trp