Canonical Allele Identifier: CA004059

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 101225
• ClinVar RCV Id: RCV000087462
• dbSNP Id: rs587779525
• MyVariant Identifiers: chr2:g.189858135_189858152del (hg19) ; chr2:g.188993409_188993426del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993410_188993427del , CM000664.2:g.188993410_188993427del	GRCh38
NC_000002.11:g.189858136_189858153del , CM000664.1:g.189858136_189858153del	GRCh37
NC_000002.10:g.189566381_189566398del	NCBI36
NG_007404.1:g.24038_24055del , LRG_3:g.24038_24055del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.1050+470_1050+487del	ENSP00000415346.2:n.1050+470_1050+487del
ENST00000304636.9:c.1100_1117del MANE Select	ENSP00000304408.4:p.Gln367_Gly372del
ENST00000304636.7:c.1100_1117del	ENSP00000304408.3:p.Gln367_Gly372del
ENST00000317840.9:c.1100_1117del	ENSP00000315243.6:p.Gln367_Gly372del
ENST00000450867.1:c.148+470_148+487del
NM_000090.3:c.1100_1117del , LRG_3t1:c.1100_1117del	NP_000081.1:p.Gln367_Gly372del
NM_000090.4:c.1100_1117del MANE Select	NP_000081.2:p.Gln367_Gly372del