Canonical Allele Identifier: CA2662309843

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189003285-TCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003288_189003290del , CM000664.2:g.189003288_189003290del	GRCh38
NC_000002.11:g.189868014_189868016del , CM000664.1:g.189868014_189868016del	GRCh37
NC_000002.10:g.189576259_189576261del	NCBI36
NG_007404.1:g.33916_33918del , LRG_3:g.33916_33918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2455-123_2455-121del	ENSP00000415346.2:n.2455-123_2455-121del
ENST00000304636.9:c.2554-123_2554-121del MANE Select	ENSP00000304408.4:n.2554-123_2554-121del
ENST00000304636.7:c.2554-123_2554-121del	ENSP00000304408.3:n.2554-123_2554-121del
ENST00000317840.9:c.2527+252_2527+254del	ENSP00000315243.6:n.2527+252_2527+254del
NM_000090.3:c.2554-123_2554-121del , LRG_3t1:c.2554-123_2554-121del	NP_000081.1:n.2554-123_2554-121del
NM_000090.4:c.2554-123_2554-121del MANE Select	NP_000081.2:n.2554-123_2554-121del