Canonical Allele Identifier: CA2695235252

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695352_108695413del , CM000685.2:g.108695352_108695413del	GRCh38
NC_000023.10:g.107938582_107938643del , CM000685.1:g.107938582_107938643del	GRCh37
NC_000023.9:g.107825238_107825299del	NCBI36
NG_011977.1:g.260429_260490del
NG_011977.2:g.260429_260490del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4907_4968del MANE Select	ENSP00000331902.7:p.Ile1636AsnfsTer10
ENST00000361603.7:c.4889_4950del	ENSP00000354505.2:p.Ile1630AsnfsTer10
ENST00000510690.2:n.1401_1462del
ENST00000644079.1:n.1738_1799del
ENST00000328300.10:c.4907_4968del	ENSP00000331902.6:p.Ile1636AsnfsTer10
ENST00000361603.6:c.4889_4950del	ENSP00000354505.2:p.Ile1630AsnfsTer10
ENST00000504541.1:c.219+431_219+492del	ENSP00000424845.1:n.219+431_219+492del
ENST00000515658.1:c.325-945_325-884del
NM_000495.4:c.4889_4950del	NP_000486.1:p.Ile1630AsnfsTer10
NM_033380.2:c.4907_4968del	NP_203699.1:p.Ile1636AsnfsTer10
XM_005262070.2:c.4898_4959del	XP_005262127.1:p.Ile1633AsnfsTer10
XM_006724616.2:c.4907_4968del	XP_006724679.1:p.Ile1636AsnfsTer10
XM_011530849.1:c.4583_4644del	XP_011529151.1:p.Ile1528AsnfsTer10
XM_011530851.1:c.2480_2541del	XP_011529153.1:p.Ile827AsnfsTer10
XM_011530849.2:c.4922_4983del	XP_011529151.2:p.Ile1641AsnfsTer10
XM_017029259.2:c.4913_4974del	XP_016884748.1:p.Ile1638AsnfsTer10
XM_017029260.1:c.4904_4965del	XP_016884749.1:p.Ile1635AsnfsTer10
XM_017029263.2:c.3242_3303del	XP_016884752.1:p.Ile1081AsnfsTer10
NM_000495.5:c.4889_4950del	NP_000486.1:p.Ile1630AsnfsTer10
NM_033380.3:c.4907_4968del MANE Select	NP_203699.1:p.Ile1636AsnfsTer10