Canonical Allele Identifier: CA1315428654

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189059160_189059164delinsAAGAT , CM000664.2:g.189059160_189059164delinsAAGAT	GRCh38
NC_000002.11:g.189923886_189923890delinsAAGAT , CM000664.1:g.189923886_189923890delinsAAGAT	GRCh37
NC_000002.10:g.189632131_189632135delinsAAGAT	NCBI36
NG_011799.1:g.125716_125720delinsATCTT
NG_011799.2:g.125716_125720delinsATCTT
NG_011799.3:g.171138_171142delinsATCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-271_2086-267delinsATCTT MANE Select	ENSP00000364000.3:n.2086-271_2086-267delinsATCTT
ENST00000374866.7:c.2086-271_2086-267delinsATCTT	ENSP00000364000.3:n.2086-271_2086-267delinsATCTT
ENST00000470524.2:n.192-271_192-267delinsATCTT
ENST00000618828.1:c.925-271_925-267delinsATCTT	ENSP00000482184.1:n.925-271_925-267delinsATCTT
NM_000393.3:c.2086-271_2086-267delinsATCTT	NP_000384.2:n.2086-271_2086-267delinsATCTT
XM_011510573.1:c.1948-271_1948-267delinsATCTT	XP_011508875.1:n.1948-271_1948-267delinsATCTT
NM_000393.4:c.2086-271_2086-267delinsATCTT	NP_000384.2:n.2086-271_2086-267delinsATCTT
XM_011510573.3:c.1948-271_1948-267delinsATCTT	XP_011508875.1:n.1948-271_1948-267delinsATCTT
NM_000393.5:c.2086-271_2086-267delinsATCTT MANE Select	NP_000384.2:n.2086-271_2086-267delinsATCTT