Canonical Allele Identifier: CA1022830477

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v3: 21-45510940-CACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCA-C
• gnomAD v4: 21-45510940-CACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45510941_45511046del , CM000683.2:g.45510941_45511046del	GRCh38
NC_000021.8:g.46930855_46930960del , CM000683.1:g.46930855_46930960del	GRCh37
NC_000021.7:g.45755283_45755388del	NCBI36
NG_011903.1:g.110750_110855del
NG_028278.2:g.57098_57203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4234-170_4234-65del (COL18A1)	ENSP00000347665.5:n.4234-170_4234-65del
ENST00000651438.1:c.3694-170_3694-65del (COL18A1) MANE Select	ENSP00000498485.1:n.3694-170_3694-65del
ENST00000342220.9:c.1738-170_1738-65del (COL18A1)	ENSP00000339118.5:n.1738-170_1738-65del
ENST00000355480.9:c.4234-170_4234-65del (COL18A1)	ENSP00000347665.5:n.4234-170_4234-65del
ENST00000359759.8:c.4939-170_4939-65del (COL18A1)	ENSP00000352798.4:n.4939-170_4939-65del
ENST00000400337.6:c.3694-170_3694-65del (COL18A1)	ENSP00000383191.2:n.3694-170_3694-65del
ENST00000417954.5:c.498-12434_498-12329del (SLC19A1)
ENST00000423214.1:c.648-170_648-65del (COL18A1)
ENST00000473212.1:n.2020-170_2020-65del (COL18A1)
ENST00000567670.5:c.1294-12434_1294-12329del (SLC19A1)	ENSP00000457278.1:n.1294-12434_1294-12329del
NM_030582.3:c.4225-170_4225-65del (COL18A1)	NP_085059.2:n.4225-170_4225-65del
NM_130444.2:c.4930-170_4930-65del (COL18A1)	NP_569711.2:n.4930-170_4930-65del
NM_130445.3:c.3685-170_3685-65del (COL18A1)	NP_569712.2:n.3685-170_3685-65del
XM_011529707.1:c.1585-8077_1585-7972del (SLC19A1)	XP_011528009.1:n.1585-8077_1585-7972del
XM_017028445.2:c.1585-8077_1585-7972del (SLC19A1)	XP_016883934.1:n.1585-8077_1585-7972del
NM_030582.4:c.4225-170_4225-65del (COL18A1)	NP_085059.2:n.4225-170_4225-65del
NM_130444.3:c.4930-170_4930-65del (COL18A1)	NP_569711.2:n.4930-170_4930-65del
NM_130445.4:c.3685-170_3685-65del (COL18A1)	NP_569712.2:n.3685-170_3685-65del
NM_001379500.1:c.3694-170_3694-65del (COL18A1) MANE Select	NP_001366429.1:n.3694-170_3694-65del