Canonical Allele Identifier: CA1315400071

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997500_188997503delinsCAAT , CM000664.2:g.188997500_188997503delinsCAAT	GRCh38
NC_000002.11:g.189862226_189862229delinsCAAT , CM000664.1:g.189862226_189862229delinsCAAT	GRCh37
NC_000002.10:g.189570471_189570474delinsCAAT	NCBI36
NG_007404.1:g.28128_28131delinsCAAT , LRG_3:g.28128_28131delinsCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1770+111_1770+114delinsCAAT	ENSP00000415346.2:n.1770+111_1770+114delinsCAAT
ENST00000304636.9:c.1869+111_1869+114delinsCAAT MANE Select	ENSP00000304408.4:n.1869+111_1869+114delinsCAAT
ENST00000304636.7:c.1869+111_1869+114delinsCAAT	ENSP00000304408.3:n.1869+111_1869+114delinsCAAT
ENST00000317840.9:c.1869+111_1869+114delinsCAAT	ENSP00000315243.6:n.1869+111_1869+114delinsCAAT
NM_000090.3:c.1869+111_1869+114delinsCAAT , LRG_3t1:c.1869+111_1869+114delinsCAAT	NP_000081.1:n.1869+111_1869+114delinsCAAT
NM_000090.4:c.1869+111_1869+114delinsCAAT MANE Select	NP_000081.2:n.1869+111_1869+114delinsCAAT