Canonical Allele Identifier: CA2579677123

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686029_108686030del , CM000685.2:g.108686029_108686030del	GRCh38
NC_000023.10:g.107929259_107929260del , CM000685.1:g.107929259_107929260del	GRCh37
NC_000023.9:g.107815915_107815916del	NCBI36
NG_011977.1:g.251106_251107del
NG_011977.2:g.251106_251107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4217-2_4217-1del MANE Select	ENSP00000331902.7:n.4217-2_4217-1del
ENST00000361603.7:c.4199-2_4199-1del	ENSP00000354505.2:n.4199-2_4199-1del
ENST00000510690.2:n.711-2_711-1del
ENST00000328300.10:c.4217-2_4217-1del	ENSP00000331902.6:n.4217-2_4217-1del
ENST00000361603.6:c.4199-2_4199-1del	ENSP00000354505.2:n.4199-2_4199-1del
ENST00000489230.1:n.620-2_620-1del
ENST00000515658.1:c.13-2_13-1del
NM_000495.4:c.4199-2_4199-1del	NP_000486.1:n.4199-2_4199-1del
NM_033380.2:c.4217-2_4217-1del	NP_203699.1:n.4217-2_4217-1del
XM_005262070.2:c.4208-2_4208-1del	XP_005262127.1:n.4208-2_4208-1del
XM_006724616.2:c.4217-2_4217-1del	XP_006724679.1:n.4217-2_4217-1del
XM_011530849.1:c.3893-2_3893-1del	XP_011529151.1:n.3893-2_3893-1del
XM_011530851.1:c.1790-2_1790-1del	XP_011529153.1:n.1790-2_1790-1del
XM_011530849.2:c.4232-2_4232-1del	XP_011529151.2:n.4232-2_4232-1del
XM_017029259.2:c.4223-2_4223-1del	XP_016884748.1:n.4223-2_4223-1del
XM_017029260.1:c.4214-2_4214-1del	XP_016884749.1:n.4214-2_4214-1del
XM_017029263.2:c.2552-2_2552-1del	XP_016884752.1:n.2552-2_2552-1del
NM_000495.5:c.4199-2_4199-1del	NP_000486.1:n.4199-2_4199-1del
NM_033380.3:c.4217-2_4217-1del MANE Select	NP_203699.1:n.4217-2_4217-1del