Canonical Allele Identifier: CA2392195526

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45510939_45511072delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC , CM000683.2:g.45510939_45511072delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC	GRCh38
NC_000021.8:g.46930853_46930986delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC , CM000683.1:g.46930853_46930986delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC	GRCh37
NC_000021.7:g.45755281_45755414delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC	NCBI36
NG_011903.1:g.110748_110881delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC
NG_028278.2:g.57072_57205delinsGGGGTGTGGATGGGTGTGGGTGTTTGTGGGGGGGTGTGTGGATGTGGGGTGTGGATGTGTGGGGGGGGGGTGTGTTGTGTGTGTGGGGTGTGGGGGGTGTTTGGGGGTGTATGTGGGGTGTTGTGGGTGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4234-172_4234-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	ENSP00000347665.5:n.4234-172_4234-39delinsACACACACCCACAACACCC...
ENST00000651438.1:c.3694-172_3694-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1) MANE Select	ENSP00000498485.1:n.3694-172_3694-39delinsACACACACCCACAACACCC...
ENST00000342220.9:c.1738-172_1738-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	ENSP00000339118.5:n.1738-172_1738-39delinsACACACACCCACAACACCC...
ENST00000355480.9:c.4234-172_4234-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	ENSP00000347665.5:n.4234-172_4234-39delinsACACACACCCACAACACCC...
ENST00000359759.8:c.4939-172_4939-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	ENSP00000352798.4:n.4939-172_4939-39delinsACACACACCCACAACACCC...
ENST00000400337.6:c.3694-172_3694-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	ENSP00000383191.2:n.3694-172_3694-39delinsACACACACCCACAACACCC...
ENST00000417954.5:c.498-12460_498-12327delinsGGGGTGTGGATGGGTGTGGGTGTTTGTGGGGGGGTGTGTGGATGTGGGGTGTGGATGTGTGGGGGGGGGGTGTGTTGTGTGTGTGGGGTGTGGGGGGTGTTTGGGGGTGTATGTGGGGTGTTGTGGGTGTGTGT (SLC19A1)
ENST00000423214.1:c.648-172_648-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)
ENST00000473212.1:n.2020-172_2020-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)
ENST00000567670.5:c.1294-12460_1294-12327delinsGGGGTGTGGATGGGTGTGGGTGTTTGTGGGGGGGTGTGTGGATGTGGGGTGTGGATGTGTGGGGGGGGGGTGTGTTGTGTGTGTGGGGTGTGGGGGGTGTTTGGGGGTGTATGTGGGGTGTTGTGGGTGTGTGT (SLC19A1)	ENSP00000457278.1:n.1294-12460_1294-12327delinsGGGGTGTGGATGGG...
NM_030582.3:c.4225-172_4225-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	NP_085059.2:n.4225-172_4225-39delinsACACACACCCACAACACCCCACATA...
NM_130444.2:c.4930-172_4930-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	NP_569711.2:n.4930-172_4930-39delinsACACACACCCACAACACCCCACATA...
NM_130445.3:c.3685-172_3685-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	NP_569712.2:n.3685-172_3685-39delinsACACACACCCACAACACCCCACATA...
XM_011529707.1:c.1585-8103_1585-7970delinsGGGGTGTGGATGGGTGTGGGTGTTTGTGGGGGGGTGTGTGGATGTGGGGTGTGGATGTGTGGGGGGGGGGTGTGTTGTGTGTGTGGGGTGTGGGGGGTGTTTGGGGGTGTATGTGGGGTGTTGTGGGTGTGTGT (SLC19A1)	XP_011528009.1:n.1585-8103_1585-7970delinsGGGGTGTGGATGGGTGTGG...
XM_017028445.2:c.1585-8103_1585-7970delinsGGGGTGTGGATGGGTGTGGGTGTTTGTGGGGGGGTGTGTGGATGTGGGGTGTGGATGTGTGGGGGGGGGGTGTGTTGTGTGTGTGGGGTGTGGGGGGTGTTTGGGGGTGTATGTGGGGTGTTGTGGGTGTGTGT (SLC19A1)	XP_016883934.1:n.1585-8103_1585-7970delinsGGGGTGTGGATGGGTGTGG...
NM_030582.4:c.4225-172_4225-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	NP_085059.2:n.4225-172_4225-39delinsACACACACCCACAACACCCCACATA...
NM_130444.3:c.4930-172_4930-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	NP_569711.2:n.4930-172_4930-39delinsACACACACCCACAACACCCCACATA...
NM_130445.4:c.3685-172_3685-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1)	NP_569712.2:n.3685-172_3685-39delinsACACACACCCACAACACCCCACATA...
NM_001379500.1:c.3694-172_3694-39delinsACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC (COL18A1) MANE Select	NP_001366429.1:n.3694-172_3694-39delinsACACACACCCACAACACCCCAC...