Canonical Allele Identifier: CA638167601
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

dbSNP Id: rs1420116751
gnomAD v2: 21-46923731-AAAAT-A
gnomAD v3: 21-45503817-AAAAT-A
gnomAD v4: 21-45503817-AAAAT-A
MyVariant Identifiers: chr21:g.46923732_46923735del (hg19) chr21:g.45503818_45503821del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45503821_45503824del , CM000683.2:g.45503821_45503824del GRCh38
NC_000021.8:g.46923735_46923738del , CM000683.1:g.46923735_46923738del GRCh37
NC_000021.7:g.45748163_45748166del NCBI36
NG_011903.1:g.103639_103642del
NG_028278.2:g.64323_64326del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.3224-190_3224-187del (COL18A1) ENSP00000347665.5:n.3224-190_3224-187del
ENST00000651438.1:c.2684-190_2684-187del (COL18A1) MANE Select ENSP00000498485.1:n.2684-190_2684-187del
ENST00000342220.9:c.725-190_725-187del (COL18A1) ENSP00000339118.5:n.725-190_725-187del
ENST00000355480.9:c.3224-190_3224-187del (COL18A1) ENSP00000347665.5:n.3224-190_3224-187del
ENST00000359759.8:c.3929-190_3929-187del (COL18A1) ENSP00000352798.4:n.3929-190_3929-187del
ENST00000400337.6:c.2684-190_2684-187del (COL18A1) ENSP00000383191.2:n.2684-190_2684-187del
ENST00000417954.5:c.498-5209_498-5206del (SLC19A1)
ENST00000461785.1:n.189+112_189+115del (SLC19A1)
ENST00000567670.5:c.1294-5209_1294-5206del (SLC19A1) ENSP00000457278.1:n.1294-5209_1294-5206del
NM_030582.3:c.3224-190_3224-187del (COL18A1) NP_085059.2:n.3224-190_3224-187del
NM_130444.2:c.3929-190_3929-187del (COL18A1) NP_569711.2:n.3929-190_3929-187del
NM_130445.3:c.2684-190_2684-187del (COL18A1) NP_569712.2:n.2684-190_2684-187del
XM_011529707.1:c.1585-852_1585-849del (SLC19A1) XP_011528009.1:n.1585-852_1585-849del
XM_017028445.2:c.1585-852_1585-849del (SLC19A1) XP_016883934.1:n.1585-852_1585-849del
NM_030582.4:c.3224-190_3224-187del (COL18A1) NP_085059.2:n.3224-190_3224-187del
NM_130444.3:c.3929-190_3929-187del (COL18A1) NP_569711.2:n.3929-190_3929-187del
NM_130445.4:c.2684-190_2684-187del (COL18A1) NP_569712.2:n.2684-190_2684-187del
NM_001379500.1:c.2684-190_2684-187del (COL18A1) MANE Select NP_001366429.1:n.2684-190_2684-187del
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