Canonical Allele Identifier: CA1315400125

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688358889
• gnomAD v4: 2-188997622-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997622_188997623insG , CM000664.2:g.188997622_188997623insG	GRCh38
NC_000002.11:g.189862348_189862349insG , CM000664.1:g.189862348_189862349insG	GRCh37
NC_000002.10:g.189570593_189570594insG	NCBI36
NG_007404.1:g.28250_28251insG , LRG_3:g.28250_28251insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1771-78_1771-77insG	ENSP00000415346.2:n.1771-78_1771-77insG
ENST00000304636.9:c.1870-78_1870-77insG MANE Select	ENSP00000304408.4:n.1870-78_1870-77insG
ENST00000304636.7:c.1870-78_1870-77insG	ENSP00000304408.3:n.1870-78_1870-77insG
ENST00000317840.9:c.1870-78_1870-77insG	ENSP00000315243.6:n.1870-78_1870-77insG
NM_000090.3:c.1870-78_1870-77insG , LRG_3t1:c.1870-78_1870-77insG	NP_000081.1:n.1870-78_1870-77insG
NM_000090.4:c.1870-78_1870-77insG MANE Select	NP_000081.2:n.1870-78_1870-77insG