Canonical Allele Identifier: CA538441367

Gene: COL3A1

Linked Data

• dbSNP Id: rs1202810473
• gnomAD v2: 2-189862032-T-TGTCTCATATATATATG
• MyVariant Identifiers: chr2:g.189862032_189862033insGTCTCATATATATATG (hg19) ; chr2:g.188997306_188997307insGTCTCATATATATATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997306_188997307insGTCTCATATATATATG , CM000664.2:g.188997306_188997307insGTCTCATATATATATG	GRCh38
NC_000002.11:g.189862032_189862033insGTCTCATATATATATG , CM000664.1:g.189862032_189862033insGTCTCATATATATATG	GRCh37
NC_000002.10:g.189570277_189570278insGTCTCATATATATATG	NCBI36
NG_007404.1:g.27934_27935insGTCTCATATATATATG , LRG_3:g.27934_27935insGTCTCATATATATATG

Transcript Alleles

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