Canonical Allele Identifier: CA2694439124

Gene: COL4A5

Linked Data

• gnomAD v4: X-108559220-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108559221_108559222insCC , CM000685.2:g.108559221_108559222insCC	GRCh38
NC_000023.10:g.107802451_107802452insCC , CM000685.1:g.107802451_107802452insCC	GRCh37
NC_000023.9:g.107689107_107689108insCC	NCBI36
NG_011977.1:g.124298_124299insCC
NG_011977.2:g.124298_124299insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.231+68_231+69insCC MANE Select	ENSP00000331902.7:n.231+68_231+69insCC
ENST00000361603.7:c.231+68_231+69insCC	ENSP00000354505.2:n.231+68_231+69insCC
ENST00000328300.10:c.231+68_231+69insCC	ENSP00000331902.6:n.231+68_231+69insCC
ENST00000361603.6:c.231+68_231+69insCC	ENSP00000354505.2:n.231+68_231+69insCC
ENST00000470339.1:n.415+68_415+69insCC
NM_000495.4:c.231+68_231+69insCC	NP_000486.1:n.231+68_231+69insCC
NM_033380.2:c.231+68_231+69insCC	NP_203699.1:n.231+68_231+69insCC
XM_005262070.2:c.231+68_231+69insCC	XP_005262127.1:n.231+68_231+69insCC
XM_005262072.3:c.231+68_231+69insCC	XP_005262129.1:n.231+68_231+69insCC
XM_006724616.2:c.231+68_231+69insCC	XP_006724679.1:n.231+68_231+69insCC
XM_011530849.1:c.-94+68_-94+69insCC	XP_011529151.1:n.-94+68_-94+69insCC
XM_011530850.1:c.231+68_231+69insCC	XP_011529152.1:n.231+68_231+69insCC
XM_011530849.2:c.246+68_246+69insCC	XP_011529151.2:n.246+68_246+69insCC
XM_017029259.2:c.246+68_246+69insCC	XP_016884748.1:n.246+68_246+69insCC
XM_017029260.1:c.246+68_246+69insCC	XP_016884749.1:n.246+68_246+69insCC
XM_017029261.1:c.246+68_246+69insCC	XP_016884750.1:n.246+68_246+69insCC
XM_017029262.2:c.246+68_246+69insCC	XP_016884751.1:n.246+68_246+69insCC
NM_000495.5:c.231+68_231+69insCC	NP_000486.1:n.231+68_231+69insCC
NM_033380.3:c.231+68_231+69insCC MANE Select	NP_203699.1:n.231+68_231+69insCC