Canonical Allele Identifier: CA762203452

Gene: COL3A1

Linked Data

• dbSNP Id: rs1269055584
• gnomAD v3: 2-189003276-GTATGAA-G
• gnomAD v4: 2-189003276-GTATGAA-G
• MyVariant Identifiers: chr2:g.189868003_189868008del (hg19) ; chr2:g.189003277_189003282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003278_189003283del , CM000664.2:g.189003278_189003283del	GRCh38
NC_000002.11:g.189868004_189868009del , CM000664.1:g.189868004_189868009del	GRCh37
NC_000002.10:g.189576249_189576254del	NCBI36
NG_007404.1:g.33906_33911del , LRG_3:g.33906_33911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2455-133_2455-128del	ENSP00000415346.2:n.2455-133_2455-128del
ENST00000304636.9:c.2554-133_2554-128del MANE Select	ENSP00000304408.4:n.2554-133_2554-128del
ENST00000304636.7:c.2554-133_2554-128del	ENSP00000304408.3:n.2554-133_2554-128del
ENST00000317840.9:c.2527+242_2527+247del	ENSP00000315243.6:n.2527+242_2527+247del
NM_000090.3:c.2554-133_2554-128del , LRG_3t1:c.2554-133_2554-128del	NP_000081.1:n.2554-133_2554-128del
NM_000090.4:c.2554-133_2554-128del MANE Select	NP_000081.2:n.2554-133_2554-128del