Canonical Allele Identifier: CA2662310064

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189004002-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189004005del , CM000664.2:g.189004005del	GRCh38
NC_000002.11:g.189868731del , CM000664.1:g.189868731del	GRCh37
NC_000002.10:g.189576976del	NCBI36
NG_007404.1:g.34633del , LRG_3:g.34633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2586del	ENSP00000415346.2:p.Ser863AlafsTer?
ENST00000304636.9:c.2685del MANE Select	ENSP00000304408.4:p.Ser896AlafsTer?
ENST00000304636.7:c.2685del	ENSP00000304408.3:p.Ser896AlafsTer?
ENST00000317840.9:c.2527+969del	ENSP00000315243.6:n.2527+969del
NM_000090.3:c.2685del , LRG_3t1:c.2685del	NP_000081.1:p.Ser896AlafsTer?
NM_000090.4:c.2685del MANE Select	NP_000081.2:p.Ser896AlafsTer?