Canonical Allele Identifier: CA2654930527

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45509990-GGGGTGGTGCGCCCGGGGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45509996_45510015del , CM000683.2:g.45509996_45510015del	GRCh38
NC_000021.8:g.46929910_46929929del , CM000683.1:g.46929910_46929929del	GRCh37
NC_000021.7:g.45754338_45754357del	NCBI36
NG_011903.1:g.109805_109824del
NG_028278.2:g.58134_58153del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4036-68_4036-49del (COL18A1)	ENSP00000347665.5:n.4036-68_4036-49del
ENST00000651438.1:c.3496-68_3496-49del (COL18A1) MANE Select	ENSP00000498485.1:n.3496-68_3496-49del
ENST00000342220.9:c.1540-68_1540-49del (COL18A1)	ENSP00000339118.5:n.1540-68_1540-49del
ENST00000355480.9:c.4036-68_4036-49del (COL18A1)	ENSP00000347665.5:n.4036-68_4036-49del
ENST00000359759.8:c.4741-68_4741-49del (COL18A1)	ENSP00000352798.4:n.4741-68_4741-49del
ENST00000400337.6:c.3496-68_3496-49del (COL18A1)	ENSP00000383191.2:n.3496-68_3496-49del
ENST00000417954.5:c.498-11398_498-11379del (SLC19A1)
ENST00000423214.1:c.450-68_450-49del (COL18A1)
ENST00000473212.1:n.1822-68_1822-49del (COL18A1)
ENST00000567670.5:c.1294-11398_1294-11379del (SLC19A1)	ENSP00000457278.1:n.1294-11398_1294-11379...
NM_030582.3:c.4027-68_4027-49del (COL18A1)	NP_085059.2:n.4027-68_4027-49del
NM_130444.2:c.4732-68_4732-49del (COL18A1)	NP_569711.2:n.4732-68_4732-49del
NM_130445.3:c.3487-68_3487-49del (COL18A1)	NP_569712.2:n.3487-68_3487-49del
XM_011529707.1:c.1585-7041_1585-7022del (SLC19A1)	XP_011528009.1:n.1585-7041_1585-7022del
XM_017028445.2:c.1585-7041_1585-7022del (SLC19A1)	XP_016883934.1:n.1585-7041_1585-7022del
NM_030582.4:c.4027-68_4027-49del (COL18A1)	NP_085059.2:n.4027-68_4027-49del
NM_130444.3:c.4732-68_4732-49del (COL18A1)	NP_569711.2:n.4732-68_4732-49del
NM_130445.4:c.3487-68_3487-49del (COL18A1)	NP_569712.2:n.3487-68_3487-49del
NM_001379500.1:c.3496-68_3496-49del (COL18A1) MANE Select	NP_001366429.1:n.3496-68_3496-49del