Canonical Allele Identifier: CA2662308509

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188997481-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997481_188997482insAA , CM000664.2:g.188997481_188997482insAA	GRCh38
NC_000002.11:g.189862207_189862208insAA , CM000664.1:g.189862207_189862208insAA	GRCh37
NC_000002.10:g.189570452_189570453insAA	NCBI36
NG_007404.1:g.28109_28110insAA , LRG_3:g.28109_28110insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1770+92_1770+93insAA	ENSP00000415346.2:n.1770+92_1770+93insAA
ENST00000304636.9:c.1869+92_1869+93insAA MANE Select	ENSP00000304408.4:n.1869+92_1869+93insAA
ENST00000304636.7:c.1869+92_1869+93insAA	ENSP00000304408.3:n.1869+92_1869+93insAA
ENST00000317840.9:c.1869+92_1869+93insAA	ENSP00000315243.6:n.1869+92_1869+93insAA
NM_000090.3:c.1869+92_1869+93insAA , LRG_3t1:c.1869+92_1869+93insAA	NP_000081.1:n.1869+92_1869+93insAA
NM_000090.4:c.1869+92_1869+93insAA MANE Select	NP_000081.2:n.1869+92_1869+93insAA