Canonical Allele Identifier: CA2599754970

Gene: COL4A5

Linked Data

• gnomAD v3: X-108667116-G-GTTTTC
• gnomAD v4: X-108667116-G-GTTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108667120_108667121insCTTTT , CM000685.2:g.108667120_108667121insCTTTT	GRCh38
NC_000023.10:g.107910350_107910351insCTTTT , CM000685.1:g.107910350_107910351insCTTTT	GRCh37
NC_000023.9:g.107797006_107797007insCTTTT	NCBI36
NG_011977.1:g.232197_232198insCTTTT
NG_011977.2:g.232197_232198insCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3554-13_3554-12insCTTTT MANE Select	ENSP00000331902.7:n.3554-13_3554-12insCTTTT
ENST00000361603.7:c.3554-13_3554-12insCTTTT	ENSP00000354505.2:n.3554-13_3554-12insCTTTT
ENST00000328300.10:c.3554-13_3554-12insCTTTT	ENSP00000331902.6:n.3554-13_3554-12insCTTTT
ENST00000361603.6:c.3554-13_3554-12insCTTTT	ENSP00000354505.2:n.3554-13_3554-12insCTTTT
NM_000495.4:c.3554-13_3554-12insCTTTT	NP_000486.1:n.3554-13_3554-12insCTTTT
NM_033380.2:c.3554-13_3554-12insCTTTT	NP_203699.1:n.3554-13_3554-12insCTTTT
XM_005262070.2:c.3554-13_3554-12insCTTTT	XP_005262127.1:n.3554-13_3554-12insCTTTT
XM_006724616.2:c.3554-13_3554-12insCTTTT	XP_006724679.1:n.3554-13_3554-12insCTTTT
XM_011530849.1:c.3230-13_3230-12insCTTTT	XP_011529151.1:n.3230-13_3230-12insCTTTT
XM_011530850.1:c.3554-13_3554-12insCTTTT	XP_011529152.1:n.3554-13_3554-12insCTTTT
XM_011530851.1:c.1127-13_1127-12insCTTTT	XP_011529153.1:n.1127-13_1127-12insCTTTT
XM_011530849.2:c.3569-13_3569-12insCTTTT	XP_011529151.2:n.3569-13_3569-12insCTTTT
XM_017029259.2:c.3569-13_3569-12insCTTTT	XP_016884748.1:n.3569-13_3569-12insCTTTT
XM_017029260.1:c.3569-13_3569-12insCTTTT	XP_016884749.1:n.3569-13_3569-12insCTTTT
XM_017029261.1:c.3569-13_3569-12insCTTTT	XP_016884750.1:n.3569-13_3569-12insCTTTT
XM_017029262.2:c.3569-13_3569-12insCTTTT	XP_016884751.1:n.3569-13_3569-12insCTTTT
XM_017029263.2:c.1889-13_1889-12insCTTTT	XP_016884752.1:n.1889-13_1889-12insCTTTT
NM_000495.5:c.3554-13_3554-12insCTTTT	NP_000486.1:n.3554-13_3554-12insCTTTT
NM_033380.3:c.3554-13_3554-12insCTTTT MANE Select	NP_203699.1:n.3554-13_3554-12insCTTTT