Canonical Allele Identifier: CA2559692743

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997306_188997307insGTCTCATATATA , CM000664.2:g.188997306_188997307insGTCTCATATATA	GRCh38
NC_000002.11:g.189862032_189862033insGTCTCATATATA , CM000664.1:g.189862032_189862033insGTCTCATATATA	GRCh37
NC_000002.10:g.189570277_189570278insGTCTCATATATA	NCBI36
NG_007404.1:g.27934_27935insGTCTCATATATA , LRG_3:g.27934_27935insGTCTCATATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1717-30_1717-29insGTCTCATATATA	ENSP00000415346.2:n.1717-30_1717-29insGTCTCATATATA
ENST00000304636.9:c.1816-30_1816-29insGTCTCATATATA MANE Select	ENSP00000304408.4:n.1816-30_1816-29insGTCTCATATATA
ENST00000304636.7:c.1816-30_1816-29insGTCTCATATATA	ENSP00000304408.3:n.1816-30_1816-29insGTCTCATATATA
ENST00000317840.9:c.1816-30_1816-29insGTCTCATATATA	ENSP00000315243.6:n.1816-30_1816-29insGTCTCATATATA
NM_000090.3:c.1816-30_1816-29insGTCTCATATATA , LRG_3t1:c.1816-30_1816-29insGTCTCATATATA	NP_000081.1:n.1816-30_1816-29insGTCTCATATATA
NM_000090.4:c.1816-30_1816-29insGTCTCATATATA MANE Select	NP_000081.2:n.1816-30_1816-29insGTCTCATATATA