Canonical Allele Identifier: CA1315424868

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050280_189050287delinsCTCCGGGA , CM000664.2:g.189050280_189050287delinsCTCCGGGA	GRCh38
NC_000002.11:g.189915006_189915013delinsCTCCGGGA , CM000664.1:g.189915006_189915013delinsCTCCGGGA	GRCh37
NC_000002.10:g.189623251_189623258delinsCTCCGGGA	NCBI36
NG_011799.1:g.134593_134600delinsTCCCGGAG
NG_011799.2:g.134593_134600delinsTCCCGGAG
NG_011799.3:g.180015_180022delinsTCCCGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+282_3039+289delinsTCCCGGAG MANE Select	ENSP00000364000.3:n.3039+282_3039+289delinsTCCCGGAG
ENST00000374866.7:c.3039+282_3039+289delinsTCCCGGAG	ENSP00000364000.3:n.3039+282_3039+289delinsTCCCGGAG
ENST00000618828.1:c.1878+282_1878+289delinsTCCCGGAG	ENSP00000482184.1:n.1878+282_1878+289delinsTCCCGGAG
NM_000393.3:c.3039+282_3039+289delinsTCCCGGAG	NP_000384.2:n.3039+282_3039+289delinsTCCCGGAG
XM_011510573.1:c.2901+282_2901+289delinsTCCCGGAG	XP_011508875.1:n.2901+282_2901+289delinsTCCCGGAG
NM_000393.4:c.3039+282_3039+289delinsTCCCGGAG	NP_000384.2:n.3039+282_3039+289delinsTCCCGGAG
XM_011510573.3:c.2901+282_2901+289delinsTCCCGGAG	XP_011508875.1:n.2901+282_2901+289delinsTCCCGGAG
NM_000393.5:c.3039+282_3039+289delinsTCCCGGAG MANE Select	NP_000384.2:n.3039+282_3039+289delinsTCCCGGAG