Canonical Allele Identifier: CA2392190288

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45503830_45503831delinsAC , CM000683.2:g.45503830_45503831delinsAC	GRCh38
NC_000021.8:g.46923744_46923745delinsAC , CM000683.1:g.46923744_46923745delinsAC	GRCh37
NC_000021.7:g.45748172_45748173delinsAC	NCBI36
NG_011903.1:g.103648_103649delinsAC
NG_028278.2:g.64313_64314delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3224-181_3224-180delinsAC (COL18A1)	ENSP00000347665.5:n.3224-181_3224-180delinsAC
ENST00000651438.1:c.2684-181_2684-180delinsAC (COL18A1) MANE Select	ENSP00000498485.1:n.2684-181_2684-180delinsAC
ENST00000342220.9:c.725-181_725-180delinsAC (COL18A1)	ENSP00000339118.5:n.725-181_725-180delinsAC
ENST00000355480.9:c.3224-181_3224-180delinsAC (COL18A1)	ENSP00000347665.5:n.3224-181_3224-180delinsAC
ENST00000359759.8:c.3929-181_3929-180delinsAC (COL18A1)	ENSP00000352798.4:n.3929-181_3929-180delinsAC
ENST00000400337.6:c.2684-181_2684-180delinsAC (COL18A1)	ENSP00000383191.2:n.2684-181_2684-180delinsAC
ENST00000417954.5:c.498-5219_498-5218delinsGT (SLC19A1)
ENST00000461785.1:n.189+102_189+103delinsGT (SLC19A1)
ENST00000567670.5:c.1294-5219_1294-5218delinsGT (SLC19A1)	ENSP00000457278.1:n.1294-5219_1294-5218delinsGT
NM_030582.3:c.3224-181_3224-180delinsAC (COL18A1)	NP_085059.2:n.3224-181_3224-180delinsAC
NM_130444.2:c.3929-181_3929-180delinsAC (COL18A1)	NP_569711.2:n.3929-181_3929-180delinsAC
NM_130445.3:c.2684-181_2684-180delinsAC (COL18A1)	NP_569712.2:n.2684-181_2684-180delinsAC
XM_011529707.1:c.1585-862_1585-861delinsGT (SLC19A1)	XP_011528009.1:n.1585-862_1585-861delinsGT
XM_017028445.2:c.1585-862_1585-861delinsGT (SLC19A1)	XP_016883934.1:n.1585-862_1585-861delinsGT
NM_030582.4:c.3224-181_3224-180delinsAC (COL18A1)	NP_085059.2:n.3224-181_3224-180delinsAC
NM_130444.3:c.3929-181_3929-180delinsAC (COL18A1)	NP_569711.2:n.3929-181_3929-180delinsAC
NM_130445.4:c.2684-181_2684-180delinsAC (COL18A1)	NP_569712.2:n.2684-181_2684-180delinsAC
NM_001379500.1:c.2684-181_2684-180delinsAC (COL18A1) MANE Select	NP_001366429.1:n.2684-181_2684-180delinsAC