Canonical Allele Identifier: CA1028670226

Gene: MPV17

Linked Data

• dbSNP Id: rs1679508668
• gnomAD v3: 2-27312910-TGA-T
• gnomAD v4: 2-27312910-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312914_27312915del , CM000664.2:g.27312914_27312915del	GRCh38
NC_000002.11:g.27535781_27535782del , CM000664.1:g.27535781_27535782del	GRCh37
NC_000002.10:g.27389285_27389286del	NCBI36
NG_008075.1:g.14653_14654del
NG_033055.1:g.352_353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.186+82_186+83del MANE Select	ENSP00000369383.1:n.186+82_186+83del
ENST00000233545.6:c.186+82_186+83del	ENSP00000233545.2:n.186+82_186+83del
ENST00000357186.10:c.19-140_19-139del	ENSP00000349713.6:n.19-140_19-139del
ENST00000380044.5:c.186+82_186+83del	ENSP00000369383.1:n.186+82_186+83del
ENST00000402310.5:c.186+82_186+83del	ENSP00000383955.1:n.186+82_186+83del
ENST00000402722.5:c.151+82_151+83del	ENSP00000386000.1:n.151+82_151+83del
ENST00000403262.6:c.186+82_186+83del	ENSP00000385671.1:n.186+82_186+83del
ENST00000405076.5:c.186+82_186+83del	ENSP00000385175.1:n.186+82_186+83del
ENST00000405983.5:c.231+82_231+83del	ENSP00000384586.1:n.231+82_231+83del
ENST00000415514.5:c.228-140_228-139del	ENSP00000388043.1:n.228-140_228-139del
ENST00000426513.6:c.151+82_151+83del	ENSP00000403824.2:n.151+82_151+83del
ENST00000428910.5:c.108+82_108+83del	ENSP00000405235.1:n.108+82_108+83del
ENST00000430991.5:c.116+82_116+83del
ENST00000475085.1:n.75_76del
ENST00000616446.1:n.163+82_163+83del
ENST00000616707.1:n.476_477del
ENST00000617583.4:n.212+82_212+83del
ENST00000621183.4:n.242+82_242+83del
ENST00000621470.4:n.202+82_202+83del
ENST00000622003.4:n.359+82_359+83del
NM_002437.4:c.186+82_186+83del	NP_002428.1:n.186+82_186+83del
XM_005264326.2:c.186+82_186+83del	XP_005264383.1:n.186+82_186+83del
XM_005264327.2:c.27+82_27+83del	XP_005264384.1:n.27+82_27+83del
XM_006712021.2:c.138+82_138+83del	XP_006712084.1:n.138+82_138+83del
XM_005264326.4:c.186+82_186+83del	XP_005264383.1:n.186+82_186+83del
XM_006712021.3:c.138+82_138+83del	XP_006712084.1:n.138+82_138+83del
XM_017004150.1:c.168+82_168+83del	XP_016859639.1:n.168+82_168+83del
XM_017004151.1:c.138+82_138+83del	XP_016859640.1:n.138+82_138+83del
XM_017004152.1:c.27+82_27+83del	XP_016859641.1:n.27+82_27+83del
XM_024452913.1:c.138+82_138+83del	XP_024308681.1:n.138+82_138+83del
NM_002437.5:c.186+82_186+83del MANE Select	NP_002428.1:n.186+82_186+83del