Canonical Allele Identifier: CA2499975183

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668617_108668619del , CM000685.2:g.108668617_108668619del	GRCh38
NC_000023.10:g.107911847_107911849del , CM000685.1:g.107911847_107911849del	GRCh37
NC_000023.9:g.107798503_107798505del	NCBI36
NG_011977.1:g.233694_233696del
NG_011977.2:g.233694_233696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3790+113_3790+115del MANE Select	ENSP00000331902.7:n.3790+113_3790+115del
ENST00000361603.7:c.3790+113_3790+115del	ENSP00000354505.2:n.3790+113_3790+115del
ENST00000328300.10:c.3790+113_3790+115del	ENSP00000331902.6:n.3790+113_3790+115del
ENST00000361603.6:c.3790+113_3790+115del	ENSP00000354505.2:n.3790+113_3790+115del
NM_000495.4:c.3790+113_3790+115del	NP_000486.1:n.3790+113_3790+115del
NM_033380.2:c.3790+113_3790+115del	NP_203699.1:n.3790+113_3790+115del
XM_005262070.2:c.3790+113_3790+115del	XP_005262127.1:n.3790+113_3790+115del
XM_006724616.2:c.3790+113_3790+115del	XP_006724679.1:n.3790+113_3790+115del
XM_011530849.1:c.3466+113_3466+115del	XP_011529151.1:n.3466+113_3466+115del
XM_011530850.1:c.3790+113_3790+115del	XP_011529152.1:n.3790+113_3790+115del
XM_011530851.1:c.1363+113_1363+115del	XP_011529153.1:n.1363+113_1363+115del
XM_011530849.2:c.3805+113_3805+115del	XP_011529151.2:n.3805+113_3805+115del
XM_017029259.2:c.3805+113_3805+115del	XP_016884748.1:n.3805+113_3805+115del
XM_017029260.1:c.3805+113_3805+115del	XP_016884749.1:n.3805+113_3805+115del
XM_017029261.1:c.3805+113_3805+115del	XP_016884750.1:n.3805+113_3805+115del
XM_017029262.2:c.3805+113_3805+115del	XP_016884751.1:n.3805+113_3805+115del
XM_017029263.2:c.2125+113_2125+115del	XP_016884752.1:n.2125+113_2125+115del
NM_000495.5:c.3790+113_3790+115del	NP_000486.1:n.3790+113_3790+115del
NM_033380.3:c.3790+113_3790+115del MANE Select	NP_203699.1:n.3790+113_3790+115del