Canonical Allele Identifier: CA2753572114

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994392_188994393insCCAAACACACCCAACAC , CM000664.2:g.188994392_188994393insCCAAACACACCCAACAC	GRCh38
NC_000002.11:g.189859118_189859119insCCAAACACACCCAACAC , CM000664.1:g.189859118_189859119insCCAAACACACCCAACAC	GRCh37
NC_000002.10:g.189567363_189567364insCCAAACACACCCAACAC	NCBI36
NG_007404.1:g.25020_25021insCCAAACACACCCAACAC , LRG_3:g.25020_25021insCCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1194+60_1194+61insCCAAACACACCCAACAC	ENSP00000415346.2:n.1194+60_1194+61insCCAAACACACCCAACAC
ENST00000304636.9:c.1293+60_1293+61insCCAAACACACCCAACAC MANE Select	ENSP00000304408.4:n.1293+60_1293+61insCCAAACACACCCAACAC
ENST00000304636.7:c.1293+60_1293+61insCCAAACACACCCAACAC	ENSP00000304408.3:n.1293+60_1293+61insCCAAACACACCCAACAC
ENST00000317840.9:c.1293+60_1293+61insCCAAACACACCCAACAC	ENSP00000315243.6:n.1293+60_1293+61insCCAAACACACCCAACAC
NM_000090.3:c.1293+60_1293+61insCCAAACACACCCAACAC , LRG_3t1:c.1293+60_1293+61insCCAAACACACCCAACAC	NP_000081.1:n.1293+60_1293+61insCCAAACACACCCAACAC
NM_000090.4:c.1293+60_1293+61insCCAAACACACCCAACAC MANE Select	NP_000081.2:n.1293+60_1293+61insCCAAACACACCCAACAC