Canonical Allele Identifier: CA538441220

Gene: COL3A1

Linked Data

• dbSNP Id: rs1288506893
• gnomAD v2: 2-189858258-T-TCCATGAAAGCATAGTTTCATGCTTACG
• MyVariant Identifiers: chr2:g.189858258_189858259insCCATGAAAGCATAGTTTCATGCTTACG (hg19) ; chr2:g.188993532_188993533insCCATGAAAGCATAGTTTCATGCTTACG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993544_188993545insAGTTTCATGCTTACGCCATGAAAGCAT , CM000664.2:g.188993544_188993545insAGTTTCATGCTTACGCCATGAAAGCAT	GRCh38
NC_000002.11:g.189858270_189858271insAGTTTCATGCTTACGCCATGAAAGCAT , CM000664.1:g.189858270_189858271insAGTTTCATGCTTACGCCATGAAAGCAT	GRCh37
NC_000002.10:g.189566515_189566516insAGTTTCATGCTTACGCCATGAAAGCAT	NCBI36
NG_007404.1:g.24172_24173insAGTTTCATGCTTACGCCATGAAAGCAT , LRG_3:g.24172_24173insAGTTTCATGCTTACGCCATGAAAGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-494_1051-493insAGTTTCATGCTTACGCCATGAAAGCAT	ENSP00000415346.2:n.1051-494_1051-493insAGTTTCATGCTTACGCCATGA...
ENST00000304636.9:c.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAAGCAT MANE Select	ENSP00000304408.4:n.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAA...
ENST00000304636.7:c.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAAGCAT	ENSP00000304408.3:n.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAA...
ENST00000317840.9:c.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAAGCAT	ENSP00000315243.6:n.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAA...
ENST00000450867.1:c.149-494_149-493insAGTTTCATGCTTACGCCATGAAAGCAT
NM_000090.3:c.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAAGCAT , LRG_3t1:c.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAAGCAT	NP_000081.1:n.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAAGCAT
NM_000090.4:c.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAAGCAT MANE Select	NP_000081.2:n.1149+85_1149+86insAGTTTCATGCTTACGCCATGAAAGCAT