Canonical Allele Identifier: CA2543447048

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695282del , CM000685.2:g.108695282del	GRCh38
NC_000023.10:g.107938512del , CM000685.1:g.107938512del	GRCh37
NC_000023.9:g.107825168del	NCBI36
NG_011977.1:g.260359del
NG_011977.2:g.260359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4837del MANE Select	ENSP00000331902.7:p.Ala1613GlnfsTer8
ENST00000361603.7:c.4819del	ENSP00000354505.2:p.Ala1607GlnfsTer8
ENST00000510690.2:n.1331del
ENST00000644079.1:n.1668del
ENST00000328300.10:c.4837del	ENSP00000331902.6:p.Ala1613GlnfsTer8
ENST00000361603.6:c.4819del	ENSP00000354505.2:p.Ala1607GlnfsTer8
ENST00000504541.1:c.219+361del	ENSP00000424845.1:n.219+361del
ENST00000515658.1:c.325-1015del
NM_000495.4:c.4819del	NP_000486.1:p.Ala1607GlnfsTer8
NM_033380.2:c.4837del	NP_203699.1:p.Ala1613GlnfsTer8
XM_005262070.2:c.4828del	XP_005262127.1:p.Ala1610GlnfsTer8
XM_006724616.2:c.4837del	XP_006724679.1:p.Ala1613GlnfsTer8
XM_011530849.1:c.4513del	XP_011529151.1:p.Ala1505GlnfsTer8
XM_011530851.1:c.2410del	XP_011529153.1:p.Ala804GlnfsTer8
XM_011530849.2:c.4852del	XP_011529151.2:p.Ala1618GlnfsTer8
XM_017029259.2:c.4843del	XP_016884748.1:p.Ala1615GlnfsTer8
XM_017029260.1:c.4834del	XP_016884749.1:p.Ala1612GlnfsTer8
XM_017029263.2:c.3172del	XP_016884752.1:p.Ala1058GlnfsTer8
NM_000495.5:c.4819del	NP_000486.1:p.Ala1607GlnfsTer8
NM_033380.3:c.4837del MANE Select	NP_203699.1:p.Ala1613GlnfsTer8