Canonical Allele Identifier: CA1022823414

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs2037016543
• gnomAD v3: 21-45503826-AG-A
• gnomAD v4: 21-45503826-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45503828del , CM000683.2:g.45503828del	GRCh38
NC_000021.8:g.46923742del , CM000683.1:g.46923742del	GRCh37
NC_000021.7:g.45748170del	NCBI36
NG_011903.1:g.103646del
NG_028278.2:g.64317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3224-183del (COL18A1)	ENSP00000347665.5:n.3224-183del
ENST00000651438.1:c.2684-183del (COL18A1) MANE Select	ENSP00000498485.1:n.2684-183del
ENST00000342220.9:c.725-183del (COL18A1)	ENSP00000339118.5:n.725-183del
ENST00000355480.9:c.3224-183del (COL18A1)	ENSP00000347665.5:n.3224-183del
ENST00000359759.8:c.3929-183del (COL18A1)	ENSP00000352798.4:n.3929-183del
ENST00000400337.6:c.2684-183del (COL18A1)	ENSP00000383191.2:n.2684-183del
ENST00000417954.5:c.498-5215del (SLC19A1)
ENST00000461785.1:n.189+106del (SLC19A1)
ENST00000567670.5:c.1294-5215del (SLC19A1)	ENSP00000457278.1:n.1294-5215del
NM_030582.3:c.3224-183del (COL18A1)	NP_085059.2:n.3224-183del
NM_130444.2:c.3929-183del (COL18A1)	NP_569711.2:n.3929-183del
NM_130445.3:c.2684-183del (COL18A1)	NP_569712.2:n.2684-183del
XM_011529707.1:c.1585-858del (SLC19A1)	XP_011528009.1:n.1585-858del
XM_017028445.2:c.1585-858del (SLC19A1)	XP_016883934.1:n.1585-858del
NM_030582.4:c.3224-183del (COL18A1)	NP_085059.2:n.3224-183del
NM_130444.3:c.3929-183del (COL18A1)	NP_569711.2:n.3929-183del
NM_130445.4:c.2684-183del (COL18A1)	NP_569712.2:n.2684-183del
NM_001379500.1:c.2684-183del (COL18A1) MANE Select	NP_001366429.1:n.2684-183del