Canonical Allele Identifier: CA2606991853

Gene: COL3A1

Linked Data

• dbSNP Id: rs2153503401
• gnomAD v3: 2-189003175-TCTA-T
• gnomAD v4: 2-189003175-TCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003176_189003178del , CM000664.2:g.189003176_189003178del	GRCh38
NC_000002.11:g.189867902_189867904del , CM000664.1:g.189867902_189867904del	GRCh37
NC_000002.10:g.189576147_189576149del	NCBI36
NG_007404.1:g.33804_33806del , LRG_3:g.33804_33806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2454+114_2454+116del	ENSP00000415346.2:n.2454+114_2454+116del
ENST00000304636.9:c.2553+114_2553+116del MANE Select	ENSP00000304408.4:n.2553+114_2553+116del
ENST00000304636.7:c.2553+114_2553+116del	ENSP00000304408.3:n.2553+114_2553+116del
ENST00000317840.9:c.2527+140_2527+142del	ENSP00000315243.6:n.2527+140_2527+142del
NM_000090.3:c.2553+114_2553+116del , LRG_3t1:c.2553+114_2553+116del	NP_000081.1:n.2553+114_2553+116del
NM_000090.4:c.2553+114_2553+116del MANE Select	NP_000081.2:n.2553+114_2553+116del