Canonical Allele Identifier: CA1315397268

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688202680
• gnomAD v4: 2-188992149-TTAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188992150_188992154del , CM000664.2:g.188992150_188992154del	GRCh38
NC_000002.11:g.189856876_189856880del , CM000664.1:g.189856876_189856880del	GRCh37
NC_000002.10:g.189565121_189565125del	NCBI36
NG_007404.1:g.22778_22782del , LRG_3:g.22778_22782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.952-34_952-30del	ENSP00000415346.2:n.952-34_952-30del
ENST00000304636.9:c.952-34_952-30del MANE Select	ENSP00000304408.4:n.952-34_952-30del
ENST00000304636.7:c.952-34_952-30del	ENSP00000304408.3:n.952-34_952-30del
ENST00000317840.9:c.952-34_952-30del	ENSP00000315243.6:n.952-34_952-30del
ENST00000450867.1:c.50-34_50-30del
NM_000090.3:c.952-34_952-30del , LRG_3t1:c.952-34_952-30del	NP_000081.1:n.952-34_952-30del
NM_000090.4:c.952-34_952-30del MANE Select	NP_000081.2:n.952-34_952-30del