Canonical Allele Identifier: CA1339183752

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576176_240576179delinsTAAG , CM000664.2:g.240576176_240576179delinsTAAG	GRCh38
NC_000002.11:g.241515593_241515596delinsTAAG , CM000664.1:g.241515593_241515596delinsTAAG	GRCh37
NC_000002.10:g.241164266_241164269delinsTAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-359_1511-356delinsTAAG MANE Select	ENSP00000270357.4:n.1511-359_1511-356delinsTAAG
ENST00000270357.8:c.818-359_818-356delinsTAAG	ENSP00000270357.3:n.818-359_818-356delinsTAAG
ENST00000437406.1:c.110-392_110-389delinsTAAG	ENSP00000403319.1:n.110-392_110-389delinsTAAG
ENST00000451363.5:c.152-359_152-356delinsTAAG	ENSP00000414661.1:n.152-359_152-356delinsTAAG
ENST00000464550.5:n.347-359_347-356delinsTAAG
ENST00000471657.1:n.314-359_314-356delinsTAAG
ENST00000481757.5:n.2086_2089delinsTAAG
ENST00000486058.5:n.1624-359_1624-356delinsTAAG
ENST00000493398.5:n.657-359_657-356delinsTAAG
NM_018226.4:c.1511-359_1511-356delinsTAAG	NP_060696.4:n.1511-359_1511-356delinsTAAG
XM_005247036.3:c.1511-392_1511-389delinsTAAG	XP_005247093.1:n.1511-392_1511-389delinsTAAG
NM_018226.5:c.1511-359_1511-356delinsTAAG	NP_060696.4:n.1511-359_1511-356delinsTAAG
XM_005247036.4:c.1511-392_1511-389delinsTAAG	XP_005247093.1:n.1511-392_1511-389delinsTAAG
NM_018226.6:c.1511-359_1511-356delinsTAAG MANE Select	NP_060696.4:n.1511-359_1511-356delinsTAAG