Canonical Allele Identifier: CA2147178

Gene: COL4A3 MFF-DT

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227293301_227293309del , CM000664.2:g.227293301_227293309del	GRCh38
NC_000002.11:g.228158017_228158025del , CM000664.1:g.228158017_228158025del	GRCh37
NC_000002.10:g.227866261_227866269del	NCBI36
NG_011591.1:g.133737_133745del , LRG_230:g.133737_133745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.3321_3329del (COL4A3) MANE Select	ENSP00000379823.3:p.Ser1108_Gly1110del
ENST00000304990.8:c.432_440del (COL4A3)	ENSP00000302781.8:p.Ser145_Gly147del
ENST00000396578.7:c.3321_3329del (COL4A3)	ENSP00000379823.3:p.Ser1108_Gly1110del
NM_000091.4:c.3321_3329del , LRG_230t1:c.3321_3329del (COL4A3)	NP_000082.2:p.Ser1108_Gly1110del
NR_102371.1:n.244-11506_244-11498del (MFF-DT)
XM_005246276.2:c.3321_3329del (COL4A3)	XP_005246333.1:p.Ser1108_Gly1110del
XM_005246277.2:c.3216_3224del (COL4A3)	XP_005246334.1:p.Ser1073_Gly1075del
XM_005246280.2:c.*88_*96del (COL4A3)	XP_005246337.1:n.*88_*96del
XM_006712245.2:c.3321_3329del (COL4A3)	XP_006712308.1:p.Ser1108_Gly1110del
XM_011510555.1:c.3321_3329del (COL4A3)	XP_011508857.1:p.Ser1108_Gly1110del
XM_011510556.1:c.2082_2090del (COL4A3)	XP_011508858.1:p.Ser695_Gly697del
XR_241280.2:n.3459_3467del (COL4A3)
XM_005246277.3:c.3216_3224del (COL4A3)	XP_005246334.1:p.Ser1073_Gly1075del
XM_005246280.3:c.*88_*96del (COL4A3)	XP_005246337.1:n.*88_*96del
XM_006712245.3:c.3321_3329del (COL4A3)	XP_006712308.1:p.Ser1108_Gly1110del
XM_011510556.2:c.2082_2090del (COL4A3)	XP_011508858.1:p.Ser695_Gly697del
XM_017003295.1:c.3321_3329del (COL4A3)	XP_016858784.1:p.Ser1108_Gly1110del
XR_001738601.1:n.3459_3467del (COL4A3)
XR_241280.3:n.3459_3467del (COL4A3)
NM_000091.5:c.3321_3329del (COL4A3) MANE Select	NP_000082.2:p.Ser1108_Gly1110del