Canonical Allele Identifier: CA2694438444

Gene: COL4A5

Linked Data

• gnomAD v4: X-108440274-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440274_108440275insC , CM000685.2:g.108440274_108440275insC	GRCh38
NC_000023.10:g.107683504_107683505insC , CM000685.1:g.107683504_107683505insC	GRCh37
NC_000023.9:g.107570160_107570161insC	NCBI36
NG_011977.1:g.5351_5352insC
NG_012059.2:g.4200_4201insG
NG_011977.2:g.5351_5352insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.81+68_81+69insC MANE Select	ENSP00000331902.7:n.81+68_81+69insC
ENST00000361603.7:c.81+68_81+69insC	ENSP00000354505.2:n.81+68_81+69insC
ENST00000642185.1:c.82-67_82-66insC	ENSP00000495101.1:n.82-67_82-66insC
ENST00000328300.10:c.81+68_81+69insC	ENSP00000331902.6:n.81+68_81+69insC
ENST00000361603.6:c.81+68_81+69insC	ENSP00000354505.2:n.81+68_81+69insC
ENST00000470339.1:n.265+68_265+69insC
ENST00000477429.1:n.363+68_363+69insC
NM_000495.4:c.81+68_81+69insC	NP_000486.1:n.81+68_81+69insC
NM_033380.2:c.81+68_81+69insC	NP_203699.1:n.81+68_81+69insC
XM_005262070.2:c.81+68_81+69insC	XP_005262127.1:n.81+68_81+69insC
XM_005262072.3:c.81+68_81+69insC	XP_005262129.1:n.81+68_81+69insC
XM_006724616.2:c.81+68_81+69insC	XP_006724679.1:n.81+68_81+69insC
XM_011530850.1:c.81+68_81+69insC	XP_011529152.1:n.81+68_81+69insC
NM_000495.5:c.81+68_81+69insC	NP_000486.1:n.81+68_81+69insC
NM_033380.3:c.81+68_81+69insC MANE Select	NP_203699.1:n.81+68_81+69insC