Canonical Allele Identifier: CA1022830470

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs2037543419
• gnomAD v3: 21-45510939-ACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC-A
• gnomAD v4: 21-45510939-ACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45510948_45511080del , CM000683.2:g.45510948_45511080del	GRCh38
NC_000021.8:g.46930862_46930994del , CM000683.1:g.46930862_46930994del	GRCh37
NC_000021.7:g.45755290_45755422del	NCBI36
NG_011903.1:g.110757_110889del
NG_028278.2:g.57072_57204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4234-163_4234-31del (COL18A1)	ENSP00000347665.5:n.4234-163_4234-31del
ENST00000651438.1:c.3694-163_3694-31del (COL18A1) MANE Select	ENSP00000498485.1:n.3694-163_3694-31del
ENST00000342220.9:c.1738-163_1738-31del (COL18A1)	ENSP00000339118.5:n.1738-163_1738-31del
ENST00000355480.9:c.4234-163_4234-31del (COL18A1)	ENSP00000347665.5:n.4234-163_4234-31del
ENST00000359759.8:c.4939-163_4939-31del (COL18A1)	ENSP00000352798.4:n.4939-163_4939-31del
ENST00000400337.6:c.3694-163_3694-31del (COL18A1)	ENSP00000383191.2:n.3694-163_3694-31del
ENST00000417954.5:c.498-12460_498-12328del (SLC19A1)
ENST00000423214.1:c.648-163_648-31del (COL18A1)
ENST00000473212.1:n.2020-163_2020-31del (COL18A1)
ENST00000567670.5:c.1294-12460_1294-12328del (SLC19A1)	ENSP00000457278.1:n.1294-12460_1294-12328del
NM_030582.3:c.4225-163_4225-31del (COL18A1)	NP_085059.2:n.4225-163_4225-31del
NM_130444.2:c.4930-163_4930-31del (COL18A1)	NP_569711.2:n.4930-163_4930-31del
NM_130445.3:c.3685-163_3685-31del (COL18A1)	NP_569712.2:n.3685-163_3685-31del
XM_011529707.1:c.1585-8103_1585-7971del (SLC19A1)	XP_011528009.1:n.1585-8103_1585-7971del
XM_017028445.2:c.1585-8103_1585-7971del (SLC19A1)	XP_016883934.1:n.1585-8103_1585-7971del
NM_030582.4:c.4225-163_4225-31del (COL18A1)	NP_085059.2:n.4225-163_4225-31del
NM_130444.3:c.4930-163_4930-31del (COL18A1)	NP_569711.2:n.4930-163_4930-31del
NM_130445.4:c.3685-163_3685-31del (COL18A1)	NP_569712.2:n.3685-163_3685-31del
NM_001379500.1:c.3694-163_3694-31del (COL18A1) MANE Select	NP_001366429.1:n.3694-163_3694-31del