Canonical Allele Identifier: CA1040413772

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688646568
• gnomAD v3: 2-189008477-ATT-A
• gnomAD v4: 2-189008477-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008480_189008481del , CM000664.2:g.189008480_189008481del	GRCh38
NC_000002.11:g.189873206_189873207del , CM000664.1:g.189873206_189873207del	GRCh37
NC_000002.10:g.189581451_189581452del	NCBI36
NG_007404.1:g.39108_39109del , LRG_3:g.39108_39109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3426+338_3426+339del	ENSP00000415346.2:n.3426+338_3426+339del
ENST00000304636.9:c.3525+338_3525+339del MANE Select	ENSP00000304408.4:n.3525+338_3525+339del
ENST00000304636.7:c.3525+338_3525+339del	ENSP00000304408.3:n.3525+338_3525+339del
ENST00000317840.9:c.2616+338_2616+339del	ENSP00000315243.6:n.2616+338_2616+339del
ENST00000487010.1:n.179_180del
NM_000090.3:c.3525+338_3525+339del , LRG_3t1:c.3525+338_3525+339del	NP_000081.1:n.3525+338_3525+339del
NM_000090.4:c.3525+338_3525+339del MANE Select	NP_000081.2:n.3525+338_3525+339del