Canonical Allele Identifier: CA077085

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 650847
• ClinVar RCV Id: RCV000806079 ; RCV001824888
• dbSNP Id: rs772827388
• ExAC: 2:189856433 A / ACT
• gnomAD v2: 2-189856433-A-ACT
• gnomAD v4: 2-188991707-A-ACT
• MyVariant Identifiers: chr2:g.189856433_189856434insCT (hg19) ; chr2:g.188991707_188991708insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991708_188991709dup , CM000664.2:g.188991708_188991709dup	GRCh38
NC_000002.11:g.189856434_189856435dup , CM000664.1:g.189856434_189856435dup	GRCh37
NC_000002.10:g.189564679_189564680dup	NCBI36
NG_007404.1:g.22336_22337dup , LRG_3:g.22336_22337dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.937_938dup	ENSP00000415346.2:p.Pro314PhefsTer?
ENST00000304636.9:c.937_938dup MANE Select	ENSP00000304408.4:p.Pro314PhefsTer?
ENST00000304636.7:c.937_938dup	ENSP00000304408.3:p.Pro314PhefsTer?
ENST00000317840.9:c.937_938dup	ENSP00000315243.6:p.Pro314PhefsTer?
ENST00000450867.1:c.35_36dup
NM_000090.3:c.937_938dup , LRG_3t1:c.937_938dup	NP_000081.1:p.Pro314PhefsTer?
NM_000090.4:c.937_938dup MANE Select	NP_000081.2:p.Pro314PhefsTer?