Canonical Allele Identifier: CA1240215945

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27310115_27310116delinsCT , CM000664.2:g.27310115_27310116delinsCT	GRCh38
NC_000002.11:g.27532983_27532984delinsCT , CM000664.1:g.27532983_27532984delinsCT	GRCh37
NC_000002.10:g.27386487_27386488delinsCT	NCBI36
NG_008075.1:g.17448_17449delinsAG
NG_033055.1:g.3147_3148delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462-135_462-134delinsAG MANE Select	ENSP00000369383.1:n.462-135_462-134delinsAG
ENST00000233545.6:c.462-135_462-134delinsAG	ENSP00000233545.2:n.462-135_462-134delinsAG
ENST00000357186.10:c.294-135_294-134delinsAG	ENSP00000349713.6:n.294-135_294-134delinsAG
ENST00000380044.5:c.462-135_462-134delinsAG	ENSP00000369383.1:n.462-135_462-134delinsAG
ENST00000402310.5:c.409-135_409-134delinsAG	ENSP00000383955.1:n.409-135_409-134delinsAG
ENST00000402722.5:c.*41-135_*41-134delinsAG	ENSP00000386000.1:n.*41-135_*41-134delinsAG
ENST00000405076.5:c.273-135_273-134delinsAG	ENSP00000385175.1:n.273-135_273-134delinsAG
ENST00000405983.5:c.507-135_507-134delinsAG	ENSP00000384586.1:n.507-135_507-134delinsAG
ENST00000415514.5:c.*263-135_*263-134delinsAG	ENSP00000388043.1:n.*263-135_*263-134delinsAG
ENST00000426513.6:c.*127-135_*127-134delinsAG	ENSP00000403824.2:n.*127-135_*127-134delinsAG
ENST00000430991.5:c.296-135_296-134delinsAG
ENST00000620797.4:n.135-135_135-134delinsAG
ENST00000621183.4:n.765-135_765-134delinsAG
NM_002437.4:c.462-135_462-134delinsAG	NP_002428.1:n.462-135_462-134delinsAG
XM_005264326.2:c.462-135_462-134delinsAG	XP_005264383.1:n.462-135_462-134delinsAG
XM_005264327.2:c.303-135_303-134delinsAG	XP_005264384.1:n.303-135_303-134delinsAG
XM_006712021.2:c.414-135_414-134delinsAG	XP_006712084.1:n.414-135_414-134delinsAG
XM_005264326.4:c.462-135_462-134delinsAG	XP_005264383.1:n.462-135_462-134delinsAG
XM_006712021.3:c.414-135_414-134delinsAG	XP_006712084.1:n.414-135_414-134delinsAG
XM_017004150.1:c.444-135_444-134delinsAG	XP_016859639.1:n.444-135_444-134delinsAG
XM_017004151.1:c.414-135_414-134delinsAG	XP_016859640.1:n.414-135_414-134delinsAG
XM_017004152.1:c.303-135_303-134delinsAG	XP_016859641.1:n.303-135_303-134delinsAG
XM_024452913.1:c.414-135_414-134delinsAG	XP_024308681.1:n.414-135_414-134delinsAG
NM_002437.5:c.462-135_462-134delinsAG MANE Select	NP_002428.1:n.462-135_462-134delinsAG