Canonical Allele Identifier: CA2392190759

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504520_45504528delinsAGGCCCCCC , CM000683.2:g.45504520_45504528delinsAGGCCCCCC	GRCh38
NC_000021.8:g.46924434_46924442delinsAGGCCCCCC , CM000683.1:g.46924434_46924442delinsAGGCCCCCC	GRCh37
NC_000021.7:g.45748862_45748870delinsAGGCCCCCC	NCBI36
NG_028278.2:g.63616_63624delinsGGGGGGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3372_3380delinsAGGCCCCCC (COL18A1)	ENSP00000347665.5:p.Pro1124=
ENST00000651438.1:c.2832_2840delinsAGGCCCCCC (COL18A1) MANE Select	ENSP00000498485.1:p.Pro944=
ENST00000342220.9:c.873_881delinsAGGCCCCCC (COL18A1)	ENSP00000339118.5:p.Pro291=
ENST00000355480.9:c.3372_3380delinsAGGCCCCCC (COL18A1)	ENSP00000347665.5:p.Pro1124=
ENST00000359759.8:c.4077_4085delinsAGGCCCCCC (COL18A1)	ENSP00000352798.4:p.Pro1359=
ENST00000400337.6:c.2832_2840delinsAGGCCCCCC (COL18A1)	ENSP00000383191.2:p.Pro944=
ENST00000417954.5:c.498-5916_498-5908delinsGGGGGGCCT (SLC19A1)
ENST00000567670.5:c.1294-5916_1294-5908delinsGGGGGGCCT (SLC19A1)	ENSP00000457278.1:n.1294-5916_1294-5908delinsGGGGGGCCT
XM_011529707.1:c.1585-1559_1585-1551delinsGGGGGGCCT (SLC19A1)	XP_011528009.1:n.1585-1559_1585-1551delinsGGGGGGCCT
XM_017028445.2:c.1585-1559_1585-1551delinsGGGGGGCCT (SLC19A1)	XP_016883934.1:n.1585-1559_1585-1551delinsGGGGGGCCT
NM_001379500.1:c.2832_2840delinsAGGCCCCCC (COL18A1) MANE Select	NP_001366429.1:p.Pro944=