Canonical Allele Identifier: CA2814642083

Gene: ELSPBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48024231_48024238del , CM000681.2:g.48024231_48024238del	GRCh38
NC_000019.9:g.48527488_48527495del , CM000681.1:g.48527488_48527495del	GRCh37
NC_000019.8:g.53219300_53219307del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339841.7:c.*8-721_*8-714del MANE Select	ENSP00000340660.2:n.*8-721_*8-714del
ENST00000339841.6:c.*8-721_*8-714del	ENSP00000340660.2:n.*8-721_*8-714del
ENST00000593413.1:c.239-700_239-693del	ENSP00000470551.1:n.239-700_239-693del
ENST00000593782.1:c.514-721_514-714del
ENST00000597519.5:c.*8-721_*8-714del	ENSP00000471690.1:n.*8-721_*8-714del
ENST00000619003.4:c.*13-721_*13-714del	ENSP00000481506.1:n.*13-721_*13-714del
NM_022142.4:c.*8-721_*8-714del	NP_071425.3:n.*8-721_*8-714del
XM_006723322.2:c.*8-721_*8-714del	XP_006723385.1:n.*8-721_*8-714del
XM_017027130.1:c.*8-721_*8-714del	XP_016882619.1:n.*8-721_*8-714del
NM_022142.5:c.*8-721_*8-714del MANE Select	NP_071425.3:n.*8-721_*8-714del