Canonical Allele Identifier: CA2694439293

Gene: COL4A5

Linked Data

• gnomAD v4: X-108568528-C-CTATTCTATTAGAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108568528_108568529insTATTCTATTAGAATA , CM000685.2:g.108568528_108568529insTATTCTATTAGAATA	GRCh38
NC_000023.10:g.107811758_107811759insTATTCTATTAGAATA , CM000685.1:g.107811758_107811759insTATTCTATTAGAATA	GRCh37
NC_000023.9:g.107698414_107698415insTATTCTATTAGAATA	NCBI36
NG_011977.1:g.133605_133606insTATTCTATTAGAATA
NG_011977.2:g.133605_133606insTATTCTATTAGAATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.277-101_277-100insTATTCTATTAGAATA MANE Select	ENSP00000331902.7:n.277-101_277-100insTAT...
ENST00000361603.7:c.277-101_277-100insTATTCTATTAGAATA	ENSP00000354505.2:n.277-101_277-100insTAT...
ENST00000328300.10:c.277-101_277-100insTATTCTATTAGAATA	ENSP00000331902.6:n.277-101_277-100insTAT...
ENST00000361603.6:c.277-101_277-100insTATTCTATTAGAATA	ENSP00000354505.2:n.277-101_277-100insTAT...
ENST00000470339.1:n.461-101_461-100insTATTCTATTAGAATA
NM_000495.4:c.277-101_277-100insTATTCTATTAGAATA	NP_000486.1:n.277-101_277-100insTATTCTATT...
NM_033380.2:c.277-101_277-100insTATTCTATTAGAATA	NP_203699.1:n.277-101_277-100insTATTCTATT...
XM_005262070.2:c.277-101_277-100insTATTCTATTAGAATA	XP_005262127.1:n.277-101_277-100insTATTCT...
XM_005262072.3:c.277-101_277-100insTATTCTATTAGAATA	XP_005262129.1:n.277-101_277-100insTATTCT...
XM_006724616.2:c.277-101_277-100insTATTCTATTAGAATA	XP_006724679.1:n.277-101_277-100insTATTCT...
XM_011530849.1:c.-48-101_-48-100insTATTCTATTAGAATA	XP_011529151.1:n.-48-101_-48-100insTATTCT...
XM_011530850.1:c.277-101_277-100insTATTCTATTAGAATA	XP_011529152.1:n.277-101_277-100insTATTCT...
XM_011530849.2:c.292-101_292-100insTATTCTATTAGAATA	XP_011529151.2:n.292-101_292-100insTATTCT...
XM_017029259.2:c.292-101_292-100insTATTCTATTAGAATA	XP_016884748.1:n.292-101_292-100insTATTCT...
XM_017029260.1:c.292-101_292-100insTATTCTATTAGAATA	XP_016884749.1:n.292-101_292-100insTATTCT...
XM_017029261.1:c.292-101_292-100insTATTCTATTAGAATA	XP_016884750.1:n.292-101_292-100insTATTCT...
XM_017029262.2:c.292-101_292-100insTATTCTATTAGAATA	XP_016884751.1:n.292-101_292-100insTATTCT...
NM_000495.5:c.277-101_277-100insTATTCTATTAGAATA	NP_000486.1:n.277-101_277-100insTATTCTATT...
NM_033380.3:c.277-101_277-100insTATTCTATTAGAATA MANE Select	NP_203699.1:n.277-101_277-100insTATTCTATT...