Canonical Allele Identifier: CA1240221921

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323252_27323254delinsACC , CM000664.2:g.27323252_27323254delinsACC	GRCh38
NC_000002.11:g.27546119_27546121delinsACC , CM000664.1:g.27546119_27546121delinsACC	GRCh37
NC_000002.10:g.27399623_27399625delinsACC	NCBI36
NG_008075.1:g.4311_4313delinsGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1179_18+1181delinsGGT	ENSP00000349713.6:n.18+1179_18+1181delinsGGT
XM_005264327.2:c.-332_-330delinsGGT	XP_005264384.1:n.-332_-330delinsGGT