Canonical Allele Identifier: CA2586965479

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988648_188988649delinsCA , CM000664.2:g.188988648_188988649delinsCA	GRCh38
NC_000002.11:g.189853374_189853375delinsCA , CM000664.1:g.189853374_189853375delinsCA	GRCh37
NC_000002.10:g.189561619_189561620delinsCA	NCBI36
NG_007404.1:g.19276_19277delinsCA , LRG_3:g.19276_19277delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.636+5_636+6delinsCA	ENSP00000415346.2:n.636+5_636+6delinsCA
ENST00000304636.9:c.636+5_636+6delinsCA MANE Select	ENSP00000304408.4:n.636+5_636+6delinsCA
ENST00000304636.7:c.636+5_636+6delinsCA	ENSP00000304408.3:n.636+5_636+6delinsCA
ENST00000317840.9:c.636+5_636+6delinsCA	ENSP00000315243.6:n.636+5_636+6delinsCA
NM_000090.3:c.636+5_636+6delinsCA , LRG_3t1:c.636+5_636+6delinsCA	NP_000081.1:n.636+5_636+6delinsCA
NM_000090.4:c.636+5_636+6delinsCA MANE Select	NP_000081.2:n.636+5_636+6delinsCA