Canonical Allele Identifier: CA1136176620

Gene: COL4A5

Linked Data

• dbSNP Id: rs2066051808
• gnomAD v3: X-108570778-G-GC
• gnomAD v4: X-108570778-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108570778_108570779insC , CM000685.2:g.108570778_108570779insC	GRCh38
NC_000023.10:g.107814008_107814009insC , CM000685.1:g.107814008_107814009insC	GRCh37
NC_000023.9:g.107700664_107700665insC	NCBI36
NG_011977.1:g.135855_135856insC
NG_011977.2:g.135855_135856insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.385-635_385-634insC MANE Select	ENSP00000331902.7:n.385-635_385-634insC
ENST00000361603.7:c.385-635_385-634insC	ENSP00000354505.2:n.385-635_385-634insC
ENST00000328300.10:c.385-635_385-634insC	ENSP00000331902.6:n.385-635_385-634insC
ENST00000361603.6:c.385-635_385-634insC	ENSP00000354505.2:n.385-635_385-634insC
NM_000495.4:c.385-635_385-634insC	NP_000486.1:n.385-635_385-634insC
NM_033380.2:c.385-635_385-634insC	NP_203699.1:n.385-635_385-634insC
XM_005262070.2:c.385-635_385-634insC	XP_005262127.1:n.385-635_385-634insC
XM_005262072.3:c.385-635_385-634insC	XP_005262129.1:n.385-635_385-634insC
XM_006724616.2:c.385-635_385-634insC	XP_006724679.1:n.385-635_385-634insC
XM_011530849.1:c.61-635_61-634insC	XP_011529151.1:n.61-635_61-634insC
XM_011530850.1:c.385-635_385-634insC	XP_011529152.1:n.385-635_385-634insC
XM_011530849.2:c.400-635_400-634insC	XP_011529151.2:n.400-635_400-634insC
XM_017029259.2:c.400-635_400-634insC	XP_016884748.1:n.400-635_400-634insC
XM_017029260.1:c.400-635_400-634insC	XP_016884749.1:n.400-635_400-634insC
XM_017029261.1:c.400-635_400-634insC	XP_016884750.1:n.400-635_400-634insC
XM_017029262.2:c.400-635_400-634insC	XP_016884751.1:n.400-635_400-634insC
NM_000495.5:c.385-635_385-634insC	NP_000486.1:n.385-635_385-634insC
NM_033380.3:c.385-635_385-634insC MANE Select	NP_203699.1:n.385-635_385-634insC