Canonical Allele Identifier: CA2739290540

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108622685_108622689del , CM000685.2:g.108622685_108622689del	GRCh38
NC_000023.10:g.107865915_107865919del , CM000685.1:g.107865915_107865919del	GRCh37
NC_000023.9:g.107752571_107752575del	NCBI36
NG_011977.1:g.187762_187766del
NG_011977.2:g.187762_187766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2777_2781del MANE Select	ENSP00000331902.7:p.Gly926AlafsTer15
ENST00000361603.7:c.2777_2781del	ENSP00000354505.2:p.Gly926AlafsTer15
ENST00000328300.10:c.2777_2781del	ENSP00000331902.6:p.Gly926AlafsTer15
ENST00000361603.6:c.2777_2781del	ENSP00000354505.2:p.Gly926AlafsTer15
ENST00000483338.1:n.2233_2237del
ENST00000505728.1:c.10_14del
NM_000495.4:c.2777_2781del	NP_000486.1:p.Gly926AlafsTer15
NM_033380.2:c.2777_2781del	NP_203699.1:p.Gly926AlafsTer15
XM_005262070.2:c.2777_2781del	XP_005262127.1:p.Gly926AlafsTer15
XM_005262072.3:c.2777_2781del	XP_005262129.1:p.Gly926AlafsTer15
XM_006724616.2:c.2777_2781del	XP_006724679.1:p.Gly926AlafsTer15
XM_011530849.1:c.2453_2457del	XP_011529151.1:p.Gly818AlafsTer15
XM_011530850.1:c.2777_2781del	XP_011529152.1:p.Gly926AlafsTer15
XM_011530851.1:c.350_354del	XP_011529153.1:p.Gly117AlafsTer15
XM_011530849.2:c.2792_2796del	XP_011529151.2:p.Gly931AlafsTer15
XM_017029259.2:c.2792_2796del	XP_016884748.1:p.Gly931AlafsTer15
XM_017029260.1:c.2792_2796del	XP_016884749.1:p.Gly931AlafsTer15
XM_017029261.1:c.2792_2796del	XP_016884750.1:p.Gly931AlafsTer15
XM_017029262.2:c.2792_2796del	XP_016884751.1:p.Gly931AlafsTer15
XM_017029263.2:c.1112_1116del	XP_016884752.1:p.Gly371AlafsTer15
NM_000495.5:c.2777_2781del	NP_000486.1:p.Gly926AlafsTer15
NM_033380.3:c.2777_2781del MANE Select	NP_203699.1:p.Gly926AlafsTer15