Canonical Allele Identifier: CA1315399509

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188996405_188996455delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC , CM000664.2:g.188996405_188996455delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC	GRCh38
NC_000002.11:g.189861131_189861181delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC , CM000664.1:g.189861131_189861181delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC	GRCh37
NC_000002.10:g.189569376_189569426delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC	NCBI36
NG_007404.1:g.27033_27083delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC , LRG_3:g.27033_27083delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1571_1621delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC	ENSP00000415346.2:p.Gln524=
ENST00000304636.9:c.1670_1720delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC MANE Select	ENSP00000304408.4:p.Gln557=
ENST00000304636.7:c.1670_1720delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC	ENSP00000304408.3:p.Gln557=
ENST00000317840.9:c.1670_1720delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC	ENSP00000315243.6:p.Gln557=
NM_000090.3:c.1670_1720delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC , LRG_3t1:c.1670_1720delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC	NP_000081.1:p.Gln557=
NM_000090.4:c.1670_1720delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC MANE Select	NP_000081.2:p.Gln557=