Canonical Allele Identifier: CA1883396718

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842309_134842310delinsGC , CM000671.2:g.134842309_134842310delinsGC	GRCh38
NC_000009.11:g.137734155_137734156delinsGC , CM000671.1:g.137734155_137734156delinsGC	GRCh37
NC_000009.10:g.136873976_136873977delinsGC	NCBI36
NG_008030.1:g.205504_205505delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*6_*7delinsGC	ENSP00000360885.4:n.*6_*7delinsGC
ENST00000371817.8:c.*6_*7delinsGC MANE Select	ENSP00000360882.3:n.*6_*7delinsGC
ENST00000371817.7:c.*6_*7delinsGC	ENSP00000360882.3:n.*6_*7delinsGC
ENST00000618395.4:c.*6_*7delinsGC	ENSP00000481360.1:n.*6_*7delinsGC
NM_000093.4:c.*6_*7delinsGC	NP_000084.3:n.*6_*7delinsGC
NM_001278074.1:c.*6_*7delinsGC	NP_001265003.1:n.*6_*7delinsGC
NR_103451.2:n.71-22101_71-22100delinsGC
NM_000093.5:c.*6_*7delinsGC MANE Select	NP_000084.3:n.*6_*7delinsGC