Canonical Allele Identifier: CA334040034

Gene: COL4A5

Linked Data

• dbSNP Id: rs966486423
• gnomAD v2: X-107845143-C-CT
• MyVariant Identifiers: chrX:g.107845143_107845144insT (hg19) ; chrX:g.108601913_108601914insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108601915dup , CM000685.2:g.108601915dup	GRCh38
NC_000023.10:g.107845145dup , CM000685.1:g.107845145dup	GRCh37
NC_000023.9:g.107731801dup	NCBI36
NG_011977.1:g.166992dup
NG_011977.2:g.166992dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2072dup MANE Select	ENSP00000331902.7:p.Leu691PhefsTer7
ENST00000361603.7:c.2072dup	ENSP00000354505.2:p.Leu691PhefsTer7
ENST00000328300.10:c.2072dup	ENSP00000331902.6:p.Leu691PhefsTer7
ENST00000361603.6:c.2072dup	ENSP00000354505.2:p.Leu691PhefsTer7
ENST00000483338.1:n.1528dup
NM_000495.4:c.2072dup	NP_000486.1:p.Leu691PhefsTer7
NM_033380.2:c.2072dup	NP_203699.1:p.Leu691PhefsTer7
XM_005262070.2:c.2072dup	XP_005262127.1:p.Leu691PhefsTer7
XM_005262072.3:c.2072dup	XP_005262129.1:p.Leu691PhefsTer7
XM_006724616.2:c.2072dup	XP_006724679.1:p.Leu691PhefsTer7
XM_011530849.1:c.1748dup	XP_011529151.1:p.Leu583PhefsTer7
XM_011530850.1:c.2072dup	XP_011529152.1:p.Leu691PhefsTer7
XM_011530849.2:c.2087dup	XP_011529151.2:p.Leu696PhefsTer7
XM_017029259.2:c.2087dup	XP_016884748.1:p.Leu696PhefsTer7
XM_017029260.1:c.2087dup	XP_016884749.1:p.Leu696PhefsTer7
XM_017029261.1:c.2087dup	XP_016884750.1:p.Leu696PhefsTer7
XM_017029262.2:c.2087dup	XP_016884751.1:p.Leu696PhefsTer7
XM_017029263.2:c.407dup	XP_016884752.1:p.Leu136PhefsTer7
NM_000495.5:c.2072dup	NP_000486.1:p.Leu691PhefsTer7
NM_033380.3:c.2072dup MANE Select	NP_203699.1:p.Leu691PhefsTer7