Canonical Allele Identifier: CA2740351968

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997432_188997433insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG , CM000664.2:g.188997432_188997433insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG	GRCh38
NC_000002.11:g.189862158_189862159insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG , CM000664.1:g.189862158_189862159insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG	GRCh37
NC_000002.10:g.189570403_189570404insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG	NCBI36
NG_007404.1:g.28060_28061insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG , LRG_3:g.28060_28061insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1770+43_1770+44insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG	ENSP00000415346.2:n.1770+43_1770+44insATGGGGCTGAGACAGGGGAATGG...
ENST00000304636.9:c.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG MANE Select	ENSP00000304408.4:n.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGG...
ENST00000304636.7:c.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG	ENSP00000304408.3:n.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGG...
ENST00000317840.9:c.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG	ENSP00000315243.6:n.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGG...
NM_000090.3:c.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG , LRG_3t1:c.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG	NP_000081.1:n.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGGGAGAGT...
NM_000090.4:c.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGGGAGAGTGCCTGGAAG MANE Select	NP_000081.2:n.1869+43_1869+44insATGGGGCTGAGACAGGGGAATGGGAGAGT...