Canonical Allele Identifier: CA2753572331
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188997310_188997311insGG , CM000664.2:g.188997310_188997311insGG GRCh38
NC_000002.11:g.189862036_189862037insGG , CM000664.1:g.189862036_189862037insGG GRCh37
NC_000002.10:g.189570281_189570282insGG NCBI36
NG_007404.1:g.27938_27939insGG , LRG_3:g.27938_27939insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1717-26_1717-25insGG ENSP00000415346.2:n.1717-26_1717-25insGG
ENST00000304636.9:c.1816-26_1816-25insGG MANE Select ENSP00000304408.4:n.1816-26_1816-25insGG
ENST00000304636.7:c.1816-26_1816-25insGG ENSP00000304408.3:n.1816-26_1816-25insGG
ENST00000317840.9:c.1816-26_1816-25insGG ENSP00000315243.6:n.1816-26_1816-25insGG
NM_000090.3:c.1816-26_1816-25insGG , LRG_3t1:c.1816-26_1816-25insGG NP_000081.1:n.1816-26_1816-25insGG
NM_000090.4:c.1816-26_1816-25insGG MANE Select NP_000081.2:n.1816-26_1816-25insGG