Canonical Allele Identifier: CA1315402991

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688527098
• gnomAD v4: 2-189003921-AAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003929_189003932del , CM000664.2:g.189003929_189003932del	GRCh38
NC_000002.11:g.189868655_189868658del , CM000664.1:g.189868655_189868658del	GRCh37
NC_000002.10:g.189576900_189576903del	NCBI36
NG_007404.1:g.34557_34560del , LRG_3:g.34557_34560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2563-53_2563-50del	ENSP00000415346.2:n.2563-53_2563-50del
ENST00000304636.9:c.2662-53_2662-50del MANE Select	ENSP00000304408.4:n.2662-53_2662-50del
ENST00000304636.7:c.2662-53_2662-50del	ENSP00000304408.3:n.2662-53_2662-50del
ENST00000317840.9:c.2527+893_2527+896del	ENSP00000315243.6:n.2527+893_2527+896del
NM_000090.3:c.2662-53_2662-50del , LRG_3t1:c.2662-53_2662-50del	NP_000081.1:n.2662-53_2662-50del
NM_000090.4:c.2662-53_2662-50del MANE Select	NP_000081.2:n.2662-53_2662-50del