Canonical Allele Identifier: CA2323507846

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665723_12665724delinsAC , CM000681.2:g.12665723_12665724delinsAC	GRCh38
NC_000019.9:g.12776537_12776538delinsAC , CM000681.1:g.12776537_12776538delinsAC	GRCh37
NC_000019.8:g.12637537_12637538delinsAC	NCBI36
NG_008318.1:g.6054_6055delinsGT
NG_015814.1:g.3920_3921delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.241_242delinsGT MANE Select	ENSP00000395473.2:p.Val81=
ENST00000221363.8:c.241_242delinsGT	ENSP00000221363.4:p.Val81=
ENST00000456935.6:c.241_242delinsGT	ENSP00000395473.2:p.Val81=
ENST00000466794.5:n.223_224delinsGT
ENST00000486847.2:c.160-199_160-198delinsGT	ENSP00000470174.1:n.160-199_160-198delinsGT
ENST00000596512.5:n.201-199_201-198delinsGT
ENST00000597961.1:c.232_233delinsGT	ENSP00000472710.1:p.Val78=
ENST00000598876.1:c.268_269delinsGT	ENSP00000470533.1:p.Val90=
ENST00000600281.1:n.282_283delinsGT
NM_000528.3:c.241_242delinsGT	NP_000519.2:p.Val81=
NM_001173498.1:c.241_242delinsGT	NP_001166969.1:p.Val81=
XM_005259913.1:c.241_242delinsGT	XP_005259970.1:p.Val81=
XM_005259913.2:c.241_242delinsGT	XP_005259970.1:p.Val81=
XM_024451518.1:c.-778_-777delinsGT	XP_024307286.1:n.-778_-777delinsGT
NM_000528.4:c.241_242delinsGT MANE Select	NP_000519.2:p.Val81=
NM_001173498.2:c.241_242delinsGT	NP_001166969.1:p.Val81=