Canonical Allele Identifier: CA1315396124

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688126961
• gnomAD v3: 2-188989268-TTC-T
• gnomAD v4: 2-188989268-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188989269_188989270del , CM000664.2:g.188989269_188989270del	GRCh38
NC_000002.11:g.189853995_189853996del , CM000664.1:g.189853995_189853996del	GRCh37
NC_000002.10:g.189562240_189562241del	NCBI36
NG_007404.1:g.19897_19898del , LRG_3:g.19897_19898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.637-127_637-126del	ENSP00000415346.2:n.637-127_637-126del
ENST00000304636.9:c.637-127_637-126del MANE Select	ENSP00000304408.4:n.637-127_637-126del
ENST00000304636.7:c.637-127_637-126del	ENSP00000304408.3:n.637-127_637-126del
ENST00000317840.9:c.637-127_637-126del	ENSP00000315243.6:n.637-127_637-126del
NM_000090.3:c.637-127_637-126del , LRG_3t1:c.637-127_637-126del	NP_000081.1:n.637-127_637-126del
NM_000090.4:c.637-127_637-126del MANE Select	NP_000081.2:n.637-127_637-126del