Canonical Allele Identifier: CA882960782

Gene: ELSPBP1

Linked Data

• dbSNP Id: rs1427148018
• MyVariant Identifiers: chr19:g.48527442_48527443insTCCC (hg19) ; chr19:g.48024185_48024186insTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48024189_48024192dup , CM000681.2:g.48024189_48024192dup	GRCh38
NC_000019.9:g.48527446_48527449dup , CM000681.1:g.48527446_48527449dup	GRCh37
NC_000019.8:g.53219258_53219261dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339841.7:c.*8-763_*8-760dup MANE Select	ENSP00000340660.2:n.*8-763_*8-760dup
ENST00000339841.6:c.*8-763_*8-760dup	ENSP00000340660.2:n.*8-763_*8-760dup
ENST00000593413.1:c.239-742_239-739dup	ENSP00000470551.1:n.239-742_239-739dup
ENST00000593782.1:c.514-763_514-760dup
ENST00000597519.5:c.*8-763_*8-760dup	ENSP00000471690.1:n.*8-763_*8-760dup
ENST00000619003.4:c.*13-763_*13-760dup	ENSP00000481506.1:n.*13-763_*13-760dup
NM_022142.4:c.*8-763_*8-760dup	NP_071425.3:n.*8-763_*8-760dup
XM_006723322.2:c.*8-763_*8-760dup	XP_006723385.1:n.*8-763_*8-760dup
XM_017027130.1:c.*8-763_*8-760dup	XP_016882619.1:n.*8-763_*8-760dup
NM_022142.5:c.*8-763_*8-760dup MANE Select	NP_071425.3:n.*8-763_*8-760dup