Canonical Allele Identifier: CA2694411667

Gene: COL4A5

Linked Data

• gnomAD v4: X-108596862-T-TTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108596862_108596863insTAA , CM000685.2:g.108596862_108596863insTAA	GRCh38
NC_000023.10:g.107840092_107840093insTAA , CM000685.1:g.107840092_107840093insTAA	GRCh37
NC_000023.9:g.107726748_107726749insTAA	NCBI36
NG_011977.1:g.161939_161940insTAA
NG_011977.2:g.161939_161940insTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1517-136_1517-135insTAA MANE Select	ENSP00000331902.7:n.1517-136_1517-135insTAA
ENST00000361603.7:c.1517-136_1517-135insTAA	ENSP00000354505.2:n.1517-136_1517-135insTAA
ENST00000328300.10:c.1517-136_1517-135insTAA	ENSP00000331902.6:n.1517-136_1517-135insTAA
ENST00000361603.6:c.1517-136_1517-135insTAA	ENSP00000354505.2:n.1517-136_1517-135insTAA
ENST00000483338.1:n.973-136_973-135insTAA
NM_000495.4:c.1517-136_1517-135insTAA	NP_000486.1:n.1517-136_1517-135insTAA
NM_033380.2:c.1517-136_1517-135insTAA	NP_203699.1:n.1517-136_1517-135insTAA
XM_005262070.2:c.1517-136_1517-135insTAA	XP_005262127.1:n.1517-136_1517-135insTAA
XM_005262072.3:c.1517-136_1517-135insTAA	XP_005262129.1:n.1517-136_1517-135insTAA
XM_006724616.2:c.1517-136_1517-135insTAA	XP_006724679.1:n.1517-136_1517-135insTAA
XM_011530849.1:c.1193-136_1193-135insTAA	XP_011529151.1:n.1193-136_1193-135insTAA
XM_011530850.1:c.1517-136_1517-135insTAA	XP_011529152.1:n.1517-136_1517-135insTAA
XM_011530849.2:c.1532-136_1532-135insTAA	XP_011529151.2:n.1532-136_1532-135insTAA
XM_017029259.2:c.1532-136_1532-135insTAA	XP_016884748.1:n.1532-136_1532-135insTAA
XM_017029260.1:c.1532-136_1532-135insTAA	XP_016884749.1:n.1532-136_1532-135insTAA
XM_017029261.1:c.1532-136_1532-135insTAA	XP_016884750.1:n.1532-136_1532-135insTAA
XM_017029262.2:c.1532-136_1532-135insTAA	XP_016884751.1:n.1532-136_1532-135insTAA
XM_017029263.2:c.-149-136_-149-135insTAA	XP_016884752.1:n.-149-136_-149-135insTAA
NM_000495.5:c.1517-136_1517-135insTAA	NP_000486.1:n.1517-136_1517-135insTAA
NM_033380.3:c.1517-136_1517-135insTAA MANE Select	NP_203699.1:n.1517-136_1517-135insTAA