Canonical Allele Identifier: CA2662288812

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993980-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993986_188993987del , CM000664.2:g.188993986_188993987del	GRCh38
NC_000002.11:g.189858712_189858713del , CM000664.1:g.189858712_189858713del	GRCh37
NC_000002.10:g.189566957_189566958del	NCBI36
NG_007404.1:g.24614_24615del , LRG_3:g.24614_24615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-52_1051-51del	ENSP00000415346.2:n.1051-52_1051-51del
ENST00000304636.9:c.1150-52_1150-51del MANE Select	ENSP00000304408.4:n.1150-52_1150-51del
ENST00000304636.7:c.1150-52_1150-51del	ENSP00000304408.3:n.1150-52_1150-51del
ENST00000317840.9:c.1150-52_1150-51del	ENSP00000315243.6:n.1150-52_1150-51del
ENST00000450867.1:c.149-52_149-51del
NM_000090.3:c.1150-52_1150-51del , LRG_3t1:c.1150-52_1150-51del	NP_000081.1:n.1150-52_1150-51del
NM_000090.4:c.1150-52_1150-51del MANE Select	NP_000081.2:n.1150-52_1150-51del