Canonical Allele Identifier: CA1883314292

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134700013_134700014delinsAT , CM000671.2:g.134700013_134700014delinsAT	GRCh38
NC_000009.11:g.137591859_137591860delinsAT , CM000671.1:g.137591859_137591860delinsAT	GRCh37
NC_000009.10:g.136731680_136731681delinsAT	NCBI36
NG_008030.1:g.63208_63209delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.382_383delinsAT	ENSP00000360885.4:p.Ile128=
ENST00000371817.8:c.382_383delinsAT MANE Select	ENSP00000360882.3:p.Ile128=
ENST00000371817.7:c.382_383delinsAT	ENSP00000360882.3:p.Ile128=
ENST00000464187.1:n.804_805delinsAT
ENST00000618395.4:c.382_383delinsAT	ENSP00000481360.1:p.Ile128=
NM_000093.4:c.382_383delinsAT	NP_000084.3:p.Ile128=
NM_001278074.1:c.382_383delinsAT	NP_001265003.1:p.Ile128=
XR_929712.1:n.784_785delinsAT
XR_929713.1:n.784_785delinsAT
XM_017014266.2:c.382_383delinsAT	XP_016869755.1:p.Ile128=
XR_001746183.1:n.780_781delinsAT
NM_000093.5:c.382_383delinsAT MANE Select	NP_000084.3:p.Ile128=