Canonical Allele Identifier: CA2662308490

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188997458-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997460del , CM000664.2:g.188997460del	GRCh38
NC_000002.11:g.189862186del , CM000664.1:g.189862186del	GRCh37
NC_000002.10:g.189570431del	NCBI36
NG_007404.1:g.28088del , LRG_3:g.28088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1770+71del	ENSP00000415346.2:n.1770+71del
ENST00000304636.9:c.1869+71del MANE Select	ENSP00000304408.4:n.1869+71del
ENST00000304636.7:c.1869+71del	ENSP00000304408.3:n.1869+71del
ENST00000317840.9:c.1869+71del	ENSP00000315243.6:n.1869+71del
NM_000090.3:c.1869+71del , LRG_3t1:c.1869+71del	NP_000081.1:n.1869+71del
NM_000090.4:c.1869+71del MANE Select	NP_000081.2:n.1869+71del