Canonical Allele Identifier: CA1315396259
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989560_188989563delinsATTG , CM000664.2:g.188989560_188989563delinsATTG GRCh38
NC_000002.11:g.189854286_189854289delinsATTG , CM000664.1:g.189854286_189854289delinsATTG GRCh37
NC_000002.10:g.189562531_189562534delinsATTG NCBI36
NG_007404.1:g.20188_20191delinsATTG , LRG_3:g.20188_20191delinsATTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.690+111_690+114delinsATTG ENSP00000415346.2:n.690+111_690+114delinsATTG
ENST00000304636.9:c.690+111_690+114delinsATTG MANE Select ENSP00000304408.4:n.690+111_690+114delinsATTG
ENST00000304636.7:c.690+111_690+114delinsATTG ENSP00000304408.3:n.690+111_690+114delinsATTG
ENST00000317840.9:c.690+111_690+114delinsATTG ENSP00000315243.6:n.690+111_690+114delinsATTG
NM_000090.3:c.690+111_690+114delinsATTG , LRG_3t1:c.690+111_690+114delinsATTG NP_000081.1:n.690+111_690+114delinsATTG
NM_000090.4:c.690+111_690+114delinsATTG MANE Select NP_000081.2:n.690+111_690+114delinsATTG