Canonical Allele Identifier: CA2662308510

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188997481-TTGTTAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997482_188997487del , CM000664.2:g.188997482_188997487del	GRCh38
NC_000002.11:g.189862208_189862213del , CM000664.1:g.189862208_189862213del	GRCh37
NC_000002.10:g.189570453_189570458del	NCBI36
NG_007404.1:g.28110_28115del , LRG_3:g.28110_28115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1770+93_1770+98del	ENSP00000415346.2:n.1770+93_1770+98del
ENST00000304636.9:c.1869+93_1869+98del MANE Select	ENSP00000304408.4:n.1869+93_1869+98del
ENST00000304636.7:c.1869+93_1869+98del	ENSP00000304408.3:n.1869+93_1869+98del
ENST00000317840.9:c.1869+93_1869+98del	ENSP00000315243.6:n.1869+93_1869+98del
NM_000090.3:c.1869+93_1869+98del , LRG_3t1:c.1869+93_1869+98del	NP_000081.1:n.1869+93_1869+98del
NM_000090.4:c.1869+93_1869+98del MANE Select	NP_000081.2:n.1869+93_1869+98del