Canonical Allele Identifier: CA2323504363

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658396_12658397delinsAC , CM000681.2:g.12658396_12658397delinsAC	GRCh38
NC_000019.9:g.12769210_12769211delinsAC , CM000681.1:g.12769210_12769211delinsAC	GRCh37
NC_000019.8:g.12630210_12630211delinsAC	NCBI36
NG_008318.1:g.13381_13382delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1109+31_1109+32delinsGT MANE Select	ENSP00000395473.2:n.1109+31_1109+32delins...
ENST00000221363.8:c.1106+31_1106+32delinsGT	ENSP00000221363.4:n.1106+31_1106+32delins...
ENST00000456935.6:c.1109+31_1109+32delinsGT	ENSP00000395473.2:n.1109+31_1109+32delins...
ENST00000465830.1:n.221_222delinsGT
ENST00000466794.5:n.1009-53_1009-52delinsGT
ENST00000495617.1:n.280+334_280+335delinsGT
NM_000528.3:c.1109+31_1109+32delinsGT	NP_000519.2:n.1109+31_1109+32delinsGT
NM_001173498.1:c.1106+31_1106+32delinsGT	NP_001166969.1:n.1106+31_1106+32delinsGT
XM_005259913.1:c.1112+31_1112+32delinsGT	XP_005259970.1:n.1112+31_1112+32delinsGT
XM_011528017.1:c.9-53_9-52delinsGT	XP_011526319.1:n.9-53_9-52delinsGT
XM_005259913.2:c.1112+31_1112+32delinsGT	XP_005259970.1:n.1112+31_1112+32delinsGT
XM_024451518.1:c.9-53_9-52delinsGT	XP_024307286.1:n.9-53_9-52delinsGT
NM_000528.4:c.1109+31_1109+32delinsGT MANE Select	NP_000519.2:n.1109+31_1109+32delinsGT
NM_001173498.2:c.1106+31_1106+32delinsGT	NP_001166969.1:n.1106+31_1106+32delinsGT