Canonical Allele Identifier: CA638497276

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs1170994529
• gnomAD v2: 21-46925157-CA-C
• gnomAD v3: 21-45505243-CA-C
• gnomAD v4: 21-45505243-CA-C
• MyVariant Identifiers: chr21:g.46925158del (hg19) ; chr21:g.45505244del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505244del , CM000683.2:g.45505244del	GRCh38
NC_000021.8:g.46925158del , CM000683.1:g.46925158del	GRCh37
NC_000021.7:g.45749586del	NCBI36
NG_011903.1:g.105053del
NG_028278.2:g.62900del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3519del (COL18A1)	ENSP00000347665.5:p.Pro1176LeufsTer?
ENST00000651438.1:c.2979del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro996LeufsTer?
ENST00000342220.9:c.1020del (COL18A1)	ENSP00000339118.5:p.Pro343LeufsTer?
ENST00000355480.9:c.3519del (COL18A1)	ENSP00000347665.5:p.Pro1176LeufsTer?
ENST00000359759.8:c.4224del (COL18A1)	ENSP00000352798.4:p.Pro1411LeufsTer?
ENST00000400337.6:c.2979del (COL18A1)	ENSP00000383191.2:p.Pro996LeufsTer?
ENST00000417954.5:c.498-6632del (SLC19A1)
ENST00000567670.5:c.1294-6632del (SLC19A1)	ENSP00000457278.1:n.1294-6632del
NM_030582.3:c.3510del (COL18A1)	NP_085059.2:p.Pro1173LeufsTer?
NM_130444.2:c.4215del (COL18A1)	NP_569711.2:p.Pro1408LeufsTer?
NM_130445.3:c.2970del (COL18A1)	NP_569712.2:p.Pro993LeufsTer?
XM_011529707.1:c.1585-2275del (SLC19A1)	XP_011528009.1:n.1585-2275del
XM_017028445.2:c.1585-2275del (SLC19A1)	XP_016883934.1:n.1585-2275del
NM_030582.4:c.3510del (COL18A1)	NP_085059.2:p.Pro1173LeufsTer?
NM_130444.3:c.4215del (COL18A1)	NP_569711.2:p.Pro1408LeufsTer?
NM_130445.4:c.2970del (COL18A1)	NP_569712.2:p.Pro993LeufsTer?
NM_001379500.1:c.2979del (COL18A1) MANE Select	NP_001366429.1:p.Pro996LeufsTer?