Canonical Allele Identifier: CA1315445892

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098691_189098700delinsACAAGAGTAC , CM000664.2:g.189098691_189098700delinsACAAGAGTAC	GRCh38
NC_000002.11:g.189963417_189963426delinsACAAGAGTAC , CM000664.1:g.189963417_189963426delinsACAAGAGTAC	GRCh37
NC_000002.10:g.189671662_189671671delinsACAAGAGTAC	NCBI36
NG_011799.1:g.86180_86189delinsGTACTCTTGT
NG_011799.2:g.86180_86189delinsGTACTCTTGT
NG_011799.3:g.131602_131611delinsGTACTCTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+27_402+36delinsGTACTCTTGT MANE Select	ENSP00000364000.3:n.402+27_402+36delinsGTACTCTTGT
ENST00000649966.1:c.264+27_264+36delinsGTACTCTTGT	ENSP00000496785.1:n.264+27_264+36delinsGTACTCTTGT
ENST00000374866.7:c.402+27_402+36delinsGTACTCTTGT	ENSP00000364000.3:n.402+27_402+36delinsGTACTCTTGT
ENST00000618828.1:c.-229+27_-229+36delinsGTACTCTTGT	ENSP00000482184.1:n.-229+27_-229+36delinsGTACTCTTGT
NM_000393.3:c.402+27_402+36delinsGTACTCTTGT	NP_000384.2:n.402+27_402+36delinsGTACTCTTGT
XM_011510573.1:c.264+27_264+36delinsGTACTCTTGT	XP_011508875.1:n.264+27_264+36delinsGTACTCTTGT
NM_000393.4:c.402+27_402+36delinsGTACTCTTGT	NP_000384.2:n.402+27_402+36delinsGTACTCTTGT
XM_011510573.3:c.264+27_264+36delinsGTACTCTTGT	XP_011508875.1:n.264+27_264+36delinsGTACTCTTGT
NM_000393.5:c.402+27_402+36delinsGTACTCTTGT MANE Select	NP_000384.2:n.402+27_402+36delinsGTACTCTTGT