Canonical Allele Identifier: CA2662288704

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993532-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993534del , CM000664.2:g.188993534del	GRCh38
NC_000002.11:g.189858260del , CM000664.1:g.189858260del	GRCh37
NC_000002.10:g.189566505del	NCBI36
NG_007404.1:g.24162del , LRG_3:g.24162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-504del	ENSP00000415346.2:n.1051-504del
ENST00000304636.9:c.1149+75del MANE Select	ENSP00000304408.4:n.1149+75del
ENST00000304636.7:c.1149+75del	ENSP00000304408.3:n.1149+75del
ENST00000317840.9:c.1149+75del	ENSP00000315243.6:n.1149+75del
ENST00000450867.1:c.149-504del
NM_000090.3:c.1149+75del , LRG_3t1:c.1149+75del	NP_000081.1:n.1149+75del
NM_000090.4:c.1149+75del MANE Select	NP_000081.2:n.1149+75del