Canonical Allele Identifier: CA1240221892

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323216_27323218delinsCTG , CM000664.2:g.27323216_27323218delinsCTG	GRCh38
NC_000002.11:g.27546083_27546085delinsCTG , CM000664.1:g.27546083_27546085delinsCTG	GRCh37
NC_000002.10:g.27399587_27399589delinsCTG	NCBI36
NG_008075.1:g.4347_4349delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1215_18+1217delinsCAG	ENSP00000349713.6:n.18+1215_18+1217delinsCAG
XM_005264327.2:c.-296_-294delinsCAG	XP_005264384.1:n.-296_-294delinsCAG