Canonical Allele Identifier: CA1022828983

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs2037470171
• gnomAD v3: 21-45509873-CGGGGCTGCTCTGACCTGGCAGCGTATG-C
• gnomAD v4: 21-45509873-CGGGGCTGCTCTGACCTGGCAGCGTATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45509883_45509909del , CM000683.2:g.45509883_45509909del	GRCh38
NC_000021.8:g.46929797_46929823del , CM000683.1:g.46929797_46929823del	GRCh37
NC_000021.7:g.45754225_45754251del	NCBI36
NG_011903.1:g.109692_109718del
NG_028278.2:g.58244_58270del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4036-181_4036-155del (COL18A1)	ENSP00000347665.5:n.4036-181_4036-155del
ENST00000651438.1:c.3496-181_3496-155del (COL18A1) MANE Select	ENSP00000498485.1:n.3496-181_3496-155del
ENST00000342220.9:c.1540-181_1540-155del (COL18A1)	ENSP00000339118.5:n.1540-181_1540-155del
ENST00000355480.9:c.4036-181_4036-155del (COL18A1)	ENSP00000347665.5:n.4036-181_4036-155del
ENST00000359759.8:c.4741-181_4741-155del (COL18A1)	ENSP00000352798.4:n.4741-181_4741-155del
ENST00000400337.6:c.3496-181_3496-155del (COL18A1)	ENSP00000383191.2:n.3496-181_3496-155del
ENST00000417954.5:c.498-11288_498-11262del (SLC19A1)
ENST00000423214.1:c.450-181_450-155del (COL18A1)
ENST00000473212.1:n.1822-181_1822-155del (COL18A1)
ENST00000567670.5:c.1294-11288_1294-11262del (SLC19A1)	ENSP00000457278.1:n.1294-11288_1294-11262del
NM_030582.3:c.4027-181_4027-155del (COL18A1)	NP_085059.2:n.4027-181_4027-155del
NM_130444.2:c.4732-181_4732-155del (COL18A1)	NP_569711.2:n.4732-181_4732-155del
NM_130445.3:c.3487-181_3487-155del (COL18A1)	NP_569712.2:n.3487-181_3487-155del
XM_011529707.1:c.1585-6931_1585-6905del (SLC19A1)	XP_011528009.1:n.1585-6931_1585-6905del
XM_017028445.2:c.1585-6931_1585-6905del (SLC19A1)	XP_016883934.1:n.1585-6931_1585-6905del
NM_030582.4:c.4027-181_4027-155del (COL18A1)	NP_085059.2:n.4027-181_4027-155del
NM_130444.3:c.4732-181_4732-155del (COL18A1)	NP_569711.2:n.4732-181_4732-155del
NM_130445.4:c.3487-181_3487-155del (COL18A1)	NP_569712.2:n.3487-181_3487-155del
NM_001379500.1:c.3496-181_3496-155del (COL18A1) MANE Select	NP_001366429.1:n.3496-181_3496-155del