Canonical Allele Identifier: CA2695235645

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108665536_108665551delinsCCA , CM000685.2:g.108665536_108665551delinsCCA	GRCh38
NC_000023.10:g.107908766_107908781delinsCCA , CM000685.1:g.107908766_107908781delinsCCA	GRCh37
NC_000023.9:g.107795422_107795437delinsCCA	NCBI36
NG_011977.1:g.230613_230628delinsCCA
NG_011977.2:g.230613_230628delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3403_3418delinsCCA MANE Select	ENSP00000331902.7:p.Ile1135ProfsTer13
ENST00000361603.7:c.3403_3418delinsCCA	ENSP00000354505.2:p.Ile1135ProfsTer13
ENST00000328300.10:c.3403_3418delinsCCA	ENSP00000331902.6:p.Ile1135ProfsTer13
ENST00000361603.6:c.3403_3418delinsCCA	ENSP00000354505.2:p.Ile1135ProfsTer13
NM_000495.4:c.3403_3418delinsCCA	NP_000486.1:p.Ile1135ProfsTer13
NM_033380.2:c.3403_3418delinsCCA	NP_203699.1:p.Ile1135ProfsTer13
XM_005262070.2:c.3403_3418delinsCCA	XP_005262127.1:p.Ile1135ProfsTer13
XM_006724616.2:c.3403_3418delinsCCA	XP_006724679.1:p.Ile1135ProfsTer13
XM_011530849.1:c.3079_3094delinsCCA	XP_011529151.1:p.Ile1027ProfsTer13
XM_011530850.1:c.3403_3418delinsCCA	XP_011529152.1:p.Ile1135ProfsTer13
XM_011530851.1:c.976_991delinsCCA	XP_011529153.1:p.Ile326ProfsTer13
XM_011530849.2:c.3418_3433delinsCCA	XP_011529151.2:p.Ile1140ProfsTer13
XM_017029259.2:c.3418_3433delinsCCA	XP_016884748.1:p.Ile1140ProfsTer13
XM_017029260.1:c.3418_3433delinsCCA	XP_016884749.1:p.Ile1140ProfsTer13
XM_017029261.1:c.3418_3433delinsCCA	XP_016884750.1:p.Ile1140ProfsTer13
XM_017029262.2:c.3418_3433delinsCCA	XP_016884751.1:p.Ile1140ProfsTer13
XM_017029263.2:c.1738_1753delinsCCA	XP_016884752.1:p.Ile580ProfsTer13
NM_000495.5:c.3403_3418delinsCCA	NP_000486.1:p.Ile1135ProfsTer13
NM_033380.3:c.3403_3418delinsCCA MANE Select	NP_203699.1:p.Ile1135ProfsTer13