Canonical Allele Identifier: CA1315404831
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007571_189007579delinsAGGATTCCC , CM000664.2:g.189007571_189007579delinsAGGATTCCC GRCh38
NC_000002.11:g.189872297_189872305delinsAGGATTCCC , CM000664.1:g.189872297_189872305delinsAGGATTCCC GRCh37
NC_000002.10:g.189580542_189580550delinsAGGATTCCC NCBI36
NG_007404.1:g.38199_38207delinsAGGATTCCC , LRG_3:g.38199_38207delinsAGGATTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3228_3236delinsAGGATTCCC ENSP00000415346.2:p.Arg1076=
ENST00000304636.9:c.3327_3335delinsAGGATTCCC MANE Select ENSP00000304408.4:p.Arg1109=
ENST00000304636.7:c.3327_3335delinsAGGATTCCC ENSP00000304408.3:p.Arg1109=
ENST00000317840.9:c.2528-483_2528-475delinsAGGATTCCC ENSP00000315243.6:n.2528-483_2528-475delinsAGGATTCCC
NM_000090.3:c.3327_3335delinsAGGATTCCC , LRG_3t1:c.3327_3335delinsAGGATTCCC NP_000081.1:p.Arg1109=
NM_000090.4:c.3327_3335delinsAGGATTCCC MANE Select NP_000081.2:p.Arg1109=