Canonical Allele Identifier: CA1040406191

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688237672
• gnomAD v3: 2-188993781-GAGA-G
• gnomAD v4: 2-188993781-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993786_188993788del , CM000664.2:g.188993786_188993788del	GRCh38
NC_000002.11:g.189858512_189858514del , CM000664.1:g.189858512_189858514del	GRCh37
NC_000002.10:g.189566757_189566759del	NCBI36
NG_007404.1:g.24414_24416del , LRG_3:g.24414_24416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-252_1051-250del	ENSP00000415346.2:n.1051-252_1051-250del
ENST00000304636.9:c.1150-252_1150-250del MANE Select	ENSP00000304408.4:n.1150-252_1150-250del
ENST00000304636.7:c.1150-252_1150-250del	ENSP00000304408.3:n.1150-252_1150-250del
ENST00000317840.9:c.1150-252_1150-250del	ENSP00000315243.6:n.1150-252_1150-250del
ENST00000450867.1:c.149-252_149-250del
NM_000090.3:c.1150-252_1150-250del , LRG_3t1:c.1150-252_1150-250del	NP_000081.1:n.1150-252_1150-250del
NM_000090.4:c.1150-252_1150-250del MANE Select	NP_000081.2:n.1150-252_1150-250del