Canonical Allele Identifier: CA1022830405

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs2037541617
• gnomAD v3: 21-45510937-AAACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACAC-A
• gnomAD v4: 21-45510937-AAACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45510945_45511003del , CM000683.2:g.45510945_45511003del	GRCh38
NC_000021.8:g.46930859_46930917del , CM000683.1:g.46930859_46930917del	GRCh37
NC_000021.7:g.45755287_45755345del	NCBI36
NG_011903.1:g.110754_110812del
NG_028278.2:g.57148_57206del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4234-166_4234-108del (COL18A1)	ENSP00000347665.5:n.4234-166_4234-108del
ENST00000651438.1:c.3694-166_3694-108del (COL18A1) MANE Select	ENSP00000498485.1:n.3694-166_3694-108del
ENST00000342220.9:c.1738-166_1738-108del (COL18A1)	ENSP00000339118.5:n.1738-166_1738-108del
ENST00000355480.9:c.4234-166_4234-108del (COL18A1)	ENSP00000347665.5:n.4234-166_4234-108del
ENST00000359759.8:c.4939-166_4939-108del (COL18A1)	ENSP00000352798.4:n.4939-166_4939-108del
ENST00000400337.6:c.3694-166_3694-108del (COL18A1)	ENSP00000383191.2:n.3694-166_3694-108del
ENST00000417954.5:c.498-12384_498-12326del (SLC19A1)
ENST00000423214.1:c.648-166_648-108del (COL18A1)
ENST00000473212.1:n.2020-166_2020-108del (COL18A1)
ENST00000567670.5:c.1294-12384_1294-12326del (SLC19A1)	ENSP00000457278.1:n.1294-12384_1294-12326del
NM_030582.3:c.4225-166_4225-108del (COL18A1)	NP_085059.2:n.4225-166_4225-108del
NM_130444.2:c.4930-166_4930-108del (COL18A1)	NP_569711.2:n.4930-166_4930-108del
NM_130445.3:c.3685-166_3685-108del (COL18A1)	NP_569712.2:n.3685-166_3685-108del
XM_011529707.1:c.1585-8027_1585-7969del (SLC19A1)	XP_011528009.1:n.1585-8027_1585-7969del
XM_017028445.2:c.1585-8027_1585-7969del (SLC19A1)	XP_016883934.1:n.1585-8027_1585-7969del
NM_030582.4:c.4225-166_4225-108del (COL18A1)	NP_085059.2:n.4225-166_4225-108del
NM_130444.3:c.4930-166_4930-108del (COL18A1)	NP_569711.2:n.4930-166_4930-108del
NM_130445.4:c.3685-166_3685-108del (COL18A1)	NP_569712.2:n.3685-166_3685-108del
NM_001379500.1:c.3694-166_3694-108del (COL18A1) MANE Select	NP_001366429.1:n.3694-166_3694-108del