Canonical Allele Identifier: CA2654930589

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45510010-TGGGTGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45510014_45510020del , CM000683.2:g.45510014_45510020del	GRCh38
NC_000021.8:g.46929928_46929934del , CM000683.1:g.46929928_46929934del	GRCh37
NC_000021.7:g.45754356_45754362del	NCBI36
NG_011903.1:g.109823_109829del
NG_028278.2:g.58127_58133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4036-50_4036-44del (COL18A1)	ENSP00000347665.5:n.4036-50_4036-44del
ENST00000651438.1:c.3496-50_3496-44del (COL18A1) MANE Select	ENSP00000498485.1:n.3496-50_3496-44del
ENST00000342220.9:c.1540-50_1540-44del (COL18A1)	ENSP00000339118.5:n.1540-50_1540-44del
ENST00000355480.9:c.4036-50_4036-44del (COL18A1)	ENSP00000347665.5:n.4036-50_4036-44del
ENST00000359759.8:c.4741-50_4741-44del (COL18A1)	ENSP00000352798.4:n.4741-50_4741-44del
ENST00000400337.6:c.3496-50_3496-44del (COL18A1)	ENSP00000383191.2:n.3496-50_3496-44del
ENST00000417954.5:c.498-11405_498-11399del (SLC19A1)
ENST00000423214.1:c.450-50_450-44del (COL18A1)
ENST00000473212.1:n.1822-50_1822-44del (COL18A1)
ENST00000567670.5:c.1294-11405_1294-11399del (SLC19A1)	ENSP00000457278.1:n.1294-11405_1294-11399del
NM_030582.3:c.4027-50_4027-44del (COL18A1)	NP_085059.2:n.4027-50_4027-44del
NM_130444.2:c.4732-50_4732-44del (COL18A1)	NP_569711.2:n.4732-50_4732-44del
NM_130445.3:c.3487-50_3487-44del (COL18A1)	NP_569712.2:n.3487-50_3487-44del
XM_011529707.1:c.1585-7048_1585-7042del (SLC19A1)	XP_011528009.1:n.1585-7048_1585-7042del
XM_017028445.2:c.1585-7048_1585-7042del (SLC19A1)	XP_016883934.1:n.1585-7048_1585-7042del
NM_030582.4:c.4027-50_4027-44del (COL18A1)	NP_085059.2:n.4027-50_4027-44del
NM_130444.3:c.4732-50_4732-44del (COL18A1)	NP_569711.2:n.4732-50_4732-44del
NM_130445.4:c.3487-50_3487-44del (COL18A1)	NP_569712.2:n.3487-50_3487-44del
NM_001379500.1:c.3496-50_3496-44del (COL18A1) MANE Select	NP_001366429.1:n.3496-50_3496-44del