Canonical Allele Identifier: CA2662288798

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993950-GATAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993953_188993956del , CM000664.2:g.188993953_188993956del	GRCh38
NC_000002.11:g.189858679_189858682del , CM000664.1:g.189858679_189858682del	GRCh37
NC_000002.10:g.189566924_189566927del	NCBI36
NG_007404.1:g.24581_24584del , LRG_3:g.24581_24584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-85_1051-82del	ENSP00000415346.2:n.1051-85_1051-82del
ENST00000304636.9:c.1150-85_1150-82del MANE Select	ENSP00000304408.4:n.1150-85_1150-82del
ENST00000304636.7:c.1150-85_1150-82del	ENSP00000304408.3:n.1150-85_1150-82del
ENST00000317840.9:c.1150-85_1150-82del	ENSP00000315243.6:n.1150-85_1150-82del
ENST00000450867.1:c.149-85_149-82del
NM_000090.3:c.1150-85_1150-82del , LRG_3t1:c.1150-85_1150-82del	NP_000081.1:n.1150-85_1150-82del
NM_000090.4:c.1150-85_1150-82del MANE Select	NP_000081.2:n.1150-85_1150-82del