Canonical Allele Identifier: CA2577627024

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45504513-GCCCCCCAGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504519_45504528del , CM000683.2:g.45504519_45504528del	GRCh38
NC_000021.8:g.46924433_46924442del , CM000683.1:g.46924433_46924442del	GRCh37
NC_000021.7:g.45748861_45748870del	NCBI36
NG_028278.2:g.63621_63630del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3371_3380del (COL18A1)	ENSP00000347665.5:p.Pro1124GlnfsTer?
ENST00000651438.1:c.2831_2840del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro944GlnfsTer?
ENST00000342220.9:c.872_881del (COL18A1)	ENSP00000339118.5:p.Pro291GlnfsTer?
ENST00000355480.9:c.3371_3380del (COL18A1)	ENSP00000347665.5:p.Pro1124GlnfsTer?
ENST00000359759.8:c.4076_4085del (COL18A1)	ENSP00000352798.4:p.Pro1359GlnfsTer?
ENST00000400337.6:c.2831_2840del (COL18A1)	ENSP00000383191.2:p.Pro944GlnfsTer?
ENST00000417954.5:c.498-5911_498-5902del (SLC19A1)
ENST00000567670.5:c.1294-5911_1294-5902del (SLC19A1)	ENSP00000457278.1:n.1294-5911_1294-5902de...
XM_011529707.1:c.1585-1554_1585-1545del (SLC19A1)	XP_011528009.1:n.1585-1554_1585-1545del
XM_017028445.2:c.1585-1554_1585-1545del (SLC19A1)	XP_016883934.1:n.1585-1554_1585-1545del
NM_001379500.1:c.2831_2840del (COL18A1) MANE Select	NP_001366429.1:p.Pro944GlnfsTer?