Canonical Allele Identifier: CA2694411199

Gene: COL4A5

Linked Data

• gnomAD v4: X-108573671-T-TACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108573671_108573672insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA , CM000685.2:g.108573671_108573672insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	GRCh38
NC_000023.10:g.107816901_107816902insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA , CM000685.1:g.107816901_107816902insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	GRCh37
NC_000023.9:g.107703557_107703558insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	NCBI36
NG_011977.1:g.138748_138749insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA
NG_011977.2:g.138748_138749insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA MANE Select	ENSP00000331902.7:n.546+17_546+18insACATA...
ENST00000361603.7:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	ENSP00000354505.2:n.546+17_546+18insACATA...
ENST00000328300.10:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	ENSP00000331902.6:n.546+17_546+18insACATA...
ENST00000361603.6:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	ENSP00000354505.2:n.546+17_546+18insACATA...
NM_000495.4:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	NP_000486.1:n.546+17_546+18insACATAATTATA...
NM_033380.2:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	NP_203699.1:n.546+17_546+18insACATAATTATA...
XM_005262070.2:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	XP_005262127.1:n.546+17_546+18insACATAATT...
XM_005262072.3:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	XP_005262129.1:n.546+17_546+18insACATAATT...
XM_006724616.2:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	XP_006724679.1:n.546+17_546+18insACATAATT...
XM_011530849.1:c.222+17_222+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	XP_011529151.1:n.222+17_222+18insACATAATT...
XM_011530850.1:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	XP_011529152.1:n.546+17_546+18insACATAATT...
XM_011530849.2:c.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	XP_011529151.2:n.561+17_561+18insACATAATT...
XM_017029259.2:c.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	XP_016884748.1:n.561+17_561+18insACATAATT...
XM_017029260.1:c.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	XP_016884749.1:n.561+17_561+18insACATAATT...
XM_017029261.1:c.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	XP_016884750.1:n.561+17_561+18insACATAATT...
XM_017029262.2:c.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	XP_016884751.1:n.561+17_561+18insACATAATT...
NM_000495.5:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA	NP_000486.1:n.546+17_546+18insACATAATTATA...
NM_033380.3:c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA MANE Select	NP_203699.1:n.546+17_546+18insACATAATTATA...