Canonical Allele Identifier: CA2580098870

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 2247603
• ClinVar RCV Id: RCV002748440

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504522_45504532delinsA , CM000683.2:g.45504522_45504532delinsA	GRCh38
NC_000021.8:g.46924436_46924446delinsA , CM000683.1:g.46924436_46924446delinsA	GRCh37
NC_000021.7:g.45748864_45748874delinsA	NCBI36
NG_011903.1:g.104331_104341delinsA
NG_028278.2:g.63612_63622delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3374_3384delinsA (COL18A1)	ENSP00000347665.5:p.Gly1125AspfsTer?
ENST00000651438.1:c.2834_2844delinsA (COL18A1) MANE Select	ENSP00000498485.1:p.Gly945AspfsTer?
ENST00000342220.9:c.875_885delinsA (COL18A1)	ENSP00000339118.5:p.Gly292AspfsTer?
ENST00000355480.9:c.3374_3384delinsA (COL18A1)	ENSP00000347665.5:p.Gly1125AspfsTer?
ENST00000359759.8:c.4079_4089delinsA (COL18A1)	ENSP00000352798.4:p.Gly1360AspfsTer?
ENST00000400337.6:c.2834_2844delinsA (COL18A1)	ENSP00000383191.2:p.Gly945AspfsTer?
ENST00000417954.5:c.498-5920_498-5910delinsT (SLC19A1)
ENST00000567670.5:c.1294-5920_1294-5910delinsT (SLC19A1)	ENSP00000457278.1:n.1294-5920_1294-5910de...
XM_011529707.1:c.1585-1563_1585-1553delinsT (SLC19A1)	XP_011528009.1:n.1585-1563_1585-1553delin...
XM_017028445.2:c.1585-1563_1585-1553delinsT (SLC19A1)	XP_016883934.1:n.1585-1563_1585-1553delin...
NM_001379500.1:c.2834_2844delinsA (COL18A1) MANE Select	NP_001366429.1:p.Gly945AspfsTer?