Canonical Allele Identifier: CA2450712062

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108665756_108665757delinsAG , CM000685.2:g.108665756_108665757delinsAG	GRCh38
NC_000023.10:g.107908986_107908987delinsAG , CM000685.1:g.107908986_107908987delinsAG	GRCh37
NC_000023.9:g.107795642_107795643delinsAG	NCBI36
NG_011977.1:g.230833_230834delinsAG
NG_011977.2:g.230833_230834delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3454+169_3454+170delinsAG MANE Select	ENSP00000331902.7:n.3454+169_3454+170delinsAG
ENST00000361603.7:c.3454+169_3454+170delinsAG	ENSP00000354505.2:n.3454+169_3454+170delinsAG
ENST00000328300.10:c.3454+169_3454+170delinsAG	ENSP00000331902.6:n.3454+169_3454+170delinsAG
ENST00000361603.6:c.3454+169_3454+170delinsAG	ENSP00000354505.2:n.3454+169_3454+170delinsAG
NM_000495.4:c.3454+169_3454+170delinsAG	NP_000486.1:n.3454+169_3454+170delinsAG
NM_033380.2:c.3454+169_3454+170delinsAG	NP_203699.1:n.3454+169_3454+170delinsAG
XM_005262070.2:c.3454+169_3454+170delinsAG	XP_005262127.1:n.3454+169_3454+170delinsAG
XM_006724616.2:c.3454+169_3454+170delinsAG	XP_006724679.1:n.3454+169_3454+170delinsAG
XM_011530849.1:c.3130+169_3130+170delinsAG	XP_011529151.1:n.3130+169_3130+170delinsAG
XM_011530850.1:c.3454+169_3454+170delinsAG	XP_011529152.1:n.3454+169_3454+170delinsAG
XM_011530851.1:c.1027+169_1027+170delinsAG	XP_011529153.1:n.1027+169_1027+170delinsAG
XM_011530849.2:c.3469+169_3469+170delinsAG	XP_011529151.2:n.3469+169_3469+170delinsAG
XM_017029259.2:c.3469+169_3469+170delinsAG	XP_016884748.1:n.3469+169_3469+170delinsAG
XM_017029260.1:c.3469+169_3469+170delinsAG	XP_016884749.1:n.3469+169_3469+170delinsAG
XM_017029261.1:c.3469+169_3469+170delinsAG	XP_016884750.1:n.3469+169_3469+170delinsAG
XM_017029262.2:c.3469+169_3469+170delinsAG	XP_016884751.1:n.3469+169_3469+170delinsAG
XM_017029263.2:c.1789+169_1789+170delinsAG	XP_016884752.1:n.1789+169_1789+170delinsAG
NM_000495.5:c.3454+169_3454+170delinsAG	NP_000486.1:n.3454+169_3454+170delinsAG
NM_033380.3:c.3454+169_3454+170delinsAG MANE Select	NP_203699.1:n.3454+169_3454+170delinsAG