Canonical Allele Identifier: CA2694438389

Gene: COL4A5

Linked Data

• gnomAD v4: X-108440215-TTCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440216_108440220del , CM000685.2:g.108440216_108440220del	GRCh38
NC_000023.10:g.107683446_107683450del , CM000685.1:g.107683446_107683450del	GRCh37
NC_000023.9:g.107570102_107570106del	NCBI36
NG_011977.1:g.5293_5297del
NG_012059.2:g.4255_4259del
NG_011977.2:g.5293_5297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.81+10_81+14del MANE Select	ENSP00000331902.7:n.81+10_81+14del
ENST00000361603.7:c.81+10_81+14del	ENSP00000354505.2:n.81+10_81+14del
ENST00000642185.1:c.81+10_81+14del	ENSP00000495101.1:n.81+10_81+14del
ENST00000328300.10:c.81+10_81+14del	ENSP00000331902.6:n.81+10_81+14del
ENST00000361603.6:c.81+10_81+14del	ENSP00000354505.2:n.81+10_81+14del
ENST00000470339.1:n.265+10_265+14del
ENST00000477429.1:n.363+10_363+14del
NM_000495.4:c.81+10_81+14del	NP_000486.1:n.81+10_81+14del
NM_033380.2:c.81+10_81+14del	NP_203699.1:n.81+10_81+14del
XM_005262070.2:c.81+10_81+14del	XP_005262127.1:n.81+10_81+14del
XM_005262072.3:c.81+10_81+14del	XP_005262129.1:n.81+10_81+14del
XM_006724616.2:c.81+10_81+14del	XP_006724679.1:n.81+10_81+14del
XM_011530850.1:c.81+10_81+14del	XP_011529152.1:n.81+10_81+14del
NM_000495.5:c.81+10_81+14del	NP_000486.1:n.81+10_81+14del
NM_033380.3:c.81+10_81+14del MANE Select	NP_203699.1:n.81+10_81+14del