Canonical Allele Identifier: CA538441383

Gene: COL3A1

Linked Data

• dbSNP Id: rs1238913645
• gnomAD v2: 2-189862226-CAAT-C
• gnomAD v3: 2-188997500-CAAT-C
• gnomAD v4: 2-188997500-CAAT-C
• MyVariant Identifiers: chr2:g.189862227_189862229del (hg19) ; chr2:g.188997501_188997503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997501_188997503del , CM000664.2:g.188997501_188997503del	GRCh38
NC_000002.11:g.189862227_189862229del , CM000664.1:g.189862227_189862229del	GRCh37
NC_000002.10:g.189570472_189570474del	NCBI36
NG_007404.1:g.28129_28131del , LRG_3:g.28129_28131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1770+112_1770+114del	ENSP00000415346.2:n.1770+112_1770+114del
ENST00000304636.9:c.1869+112_1869+114del MANE Select	ENSP00000304408.4:n.1869+112_1869+114del
ENST00000304636.7:c.1869+112_1869+114del	ENSP00000304408.3:n.1869+112_1869+114del
ENST00000317840.9:c.1869+112_1869+114del	ENSP00000315243.6:n.1869+112_1869+114del
NM_000090.3:c.1869+112_1869+114del , LRG_3t1:c.1869+112_1869+114del	NP_000081.1:n.1869+112_1869+114del
NM_000090.4:c.1869+112_1869+114del MANE Select	NP_000081.2:n.1869+112_1869+114del