Canonical Allele Identifier: CA2694415561

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695136-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695138_108695139dup , CM000685.2:g.108695138_108695139dup	GRCh38
NC_000023.10:g.107938368_107938369dup , CM000685.1:g.107938368_107938369dup	GRCh37
NC_000023.9:g.107825024_107825025dup	NCBI36
NG_011977.1:g.260215_260216dup
NG_011977.2:g.260215_260216dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4822-129_4822-128dup MANE Select	ENSP00000331902.7:n.4822-129_4822-128dup
ENST00000361603.7:c.4804-129_4804-128dup	ENSP00000354505.2:n.4804-129_4804-128dup
ENST00000510690.2:n.1316-129_1316-128dup
ENST00000644079.1:n.1524_1525dup
ENST00000328300.10:c.4822-129_4822-128dup	ENSP00000331902.6:n.4822-129_4822-128dup
ENST00000361603.6:c.4804-129_4804-128dup	ENSP00000354505.2:n.4804-129_4804-128dup
ENST00000504541.1:c.219+217_219+218dup	ENSP00000424845.1:n.219+217_219+218dup
ENST00000515658.1:c.325-1159_325-1158dup
NM_000495.4:c.4804-129_4804-128dup	NP_000486.1:n.4804-129_4804-128dup
NM_033380.2:c.4822-129_4822-128dup	NP_203699.1:n.4822-129_4822-128dup
XM_005262070.2:c.4813-129_4813-128dup	XP_005262127.1:n.4813-129_4813-128dup
XM_006724616.2:c.4822-129_4822-128dup	XP_006724679.1:n.4822-129_4822-128dup
XM_011530849.1:c.4498-129_4498-128dup	XP_011529151.1:n.4498-129_4498-128dup
XM_011530851.1:c.2395-129_2395-128dup	XP_011529153.1:n.2395-129_2395-128dup
XM_011530849.2:c.4837-129_4837-128dup	XP_011529151.2:n.4837-129_4837-128dup
XM_017029259.2:c.4828-129_4828-128dup	XP_016884748.1:n.4828-129_4828-128dup
XM_017029260.1:c.4819-129_4819-128dup	XP_016884749.1:n.4819-129_4819-128dup
XM_017029263.2:c.3157-129_3157-128dup	XP_016884752.1:n.3157-129_3157-128dup
NM_000495.5:c.4804-129_4804-128dup	NP_000486.1:n.4804-129_4804-128dup
NM_033380.3:c.4822-129_4822-128dup MANE Select	NP_203699.1:n.4822-129_4822-128dup