Canonical Allele Identifier: CA1883397640

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843362_134843373delinsTCTCTCTTGTGG , CM000671.2:g.134843362_134843373delinsTCTCTCTTGTGG	GRCh38
NC_000009.11:g.137735208_137735219delinsTCTCTCTTGTGG , CM000671.1:g.137735208_137735219delinsTCTCTCTTGTGG	GRCh37
NC_000009.10:g.136875029_136875040delinsTCTCTCTTGTGG	NCBI36
NG_008030.1:g.206557_206568delinsTCTCTCTTGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1059_*1070delinsTCTCTCTTGTGG	ENSP00000360885.4:n.*1059_*1070delinsTCTCTCTTGTGG
ENST00000371817.8:c.*1059_*1070delinsTCTCTCTTGTGG MANE Select	ENSP00000360882.3:n.*1059_*1070delinsTCTCTCTTGTGG
ENST00000371817.7:c.*1059_*1070delinsTCTCTCTTGTGG	ENSP00000360882.3:n.*1059_*1070delinsTCTCTCTTGTGG
ENST00000618395.4:c.*1059_*1070delinsTCTCTCTTGTGG	ENSP00000481360.1:n.*1059_*1070delinsTCTCTCTTGTGG
NM_000093.4:c.*1059_*1070delinsTCTCTCTTGTGG	NP_000084.3:n.*1059_*1070delinsTCTCTCTTGTGG
NM_001278074.1:c.*1059_*1070delinsTCTCTCTTGTGG	NP_001265003.1:n.*1059_*1070delinsTCTCTCTTGTGG
NR_103451.2:n.71-23164_71-23153delinsCCACAAGAGAGA
NM_000093.5:c.*1059_*1070delinsTCTCTCTTGTGG MANE Select	NP_000084.3:n.*1059_*1070delinsTCTCTCTTGTGG