Canonical Allele Identifier: CA1315424871

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050283_189050290delinsCGGGATCT , CM000664.2:g.189050283_189050290delinsCGGGATCT	GRCh38
NC_000002.11:g.189915009_189915016delinsCGGGATCT , CM000664.1:g.189915009_189915016delinsCGGGATCT	GRCh37
NC_000002.10:g.189623254_189623261delinsCGGGATCT	NCBI36
NG_011799.1:g.134590_134597delinsAGATCCCG
NG_011799.2:g.134590_134597delinsAGATCCCG
NG_011799.3:g.180012_180019delinsAGATCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+279_3039+286delinsAGATCCCG MANE Select	ENSP00000364000.3:n.3039+279_3039+286delinsAGATCCCG
ENST00000374866.7:c.3039+279_3039+286delinsAGATCCCG	ENSP00000364000.3:n.3039+279_3039+286delinsAGATCCCG
ENST00000618828.1:c.1878+279_1878+286delinsAGATCCCG	ENSP00000482184.1:n.1878+279_1878+286delinsAGATCCCG
NM_000393.3:c.3039+279_3039+286delinsAGATCCCG	NP_000384.2:n.3039+279_3039+286delinsAGATCCCG
XM_011510573.1:c.2901+279_2901+286delinsAGATCCCG	XP_011508875.1:n.2901+279_2901+286delinsAGATCCCG
NM_000393.4:c.3039+279_3039+286delinsAGATCCCG	NP_000384.2:n.3039+279_3039+286delinsAGATCCCG
XM_011510573.3:c.2901+279_2901+286delinsAGATCCCG	XP_011508875.1:n.2901+279_2901+286delinsAGATCCCG
NM_000393.5:c.3039+279_3039+286delinsAGATCCCG MANE Select	NP_000384.2:n.3039+279_3039+286delinsAGATCCCG