Canonical Allele Identifier: CA1315402526

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189002994_189003021delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC , CM000664.2:g.189002994_189003021delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC	GRCh38
NC_000002.11:g.189867720_189867747delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC , CM000664.1:g.189867720_189867747delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC	GRCh37
NC_000002.10:g.189575965_189575992delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC	NCBI36
NG_007404.1:g.33622_33649delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC , LRG_3:g.33622_33649delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2386_2413delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC	ENSP00000415346.2:p.Ala796=
ENST00000304636.9:c.2485_2512delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC MANE Select	ENSP00000304408.4:p.Ala829=
ENST00000304636.7:c.2485_2512delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC	ENSP00000304408.3:p.Ala829=
ENST00000317840.9:c.2485_2512delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC	ENSP00000315243.6:p.Ala829=
NM_000090.3:c.2485_2512delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC , LRG_3t1:c.2485_2512delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC	NP_000081.1:p.Ala829=
NM_000090.4:c.2485_2512delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC MANE Select	NP_000081.2:p.Ala829=