Canonical Allele Identifier: CA1240221890

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323213_27323215delinsACT , CM000664.2:g.27323213_27323215delinsACT	GRCh38
NC_000002.11:g.27546080_27546082delinsACT , CM000664.1:g.27546080_27546082delinsACT	GRCh37
NC_000002.10:g.27399584_27399586delinsACT	NCBI36
NG_008075.1:g.4350_4352delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1218_18+1220delinsAGT	ENSP00000349713.6:n.18+1218_18+1220delinsAGT
XM_005264327.2:c.-293_-291delinsAGT	XP_005264384.1:n.-293_-291delinsAGT