Canonical Allele Identifier: CA993647001

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12657965-A-AGTTGTGTTTTTTGGTAACAATCTGACAGTCCTGC
• gnomAD v4: 19-12657965-A-AGTTGTGTTTTTTGGTAACAATCTGACAGTCCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657965_12657966insGTTGTGTTTTTTGGTAACAATCTGACAGTCCTGC , CM000681.2:g.12657965_12657966insGTTGTGTTTTTTGGTAACAATCTGACAGTCCTGC	GRCh38
NC_000019.9:g.12768779_12768780insGTTGTGTTTTTTGGTAACAATCTGACAGTCCTGC , CM000681.1:g.12768779_12768780insGTTGTGTTTTTTGGTAACAATCTGACAGTCCTGC	GRCh37
NC_000019.8:g.12629779_12629780insGTTGTGTTTTTTGGTAACAATCTGACAGTCCTGC	NCBI36
NG_008318.1:g.13812_13813insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+97_1309+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC MANE Select	ENSP00000395473.2:n.1309+97_1309+98insGCAGGACTGTCAGATTGTTACCA...
ENST00000221363.8:c.1306+97_1306+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC	ENSP00000221363.4:n.1306+97_1306+98insGCAGGACTGTCAGATTGTTACCA...
ENST00000456935.6:c.1309+97_1309+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC	ENSP00000395473.2:n.1309+97_1309+98insGCAGGACTGTCAGATTGTTACCA...
ENST00000465830.1:n.473+97_473+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC
ENST00000466794.5:n.1208+97_1208+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC
ENST00000495617.1:n.281-206_281-205insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC
NM_000528.3:c.1309+97_1309+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC	NP_000519.2:n.1309+97_1309+98insGCAGGACTGTCAGATTGTTACCAAAAAAC...
NM_001173498.1:c.1306+97_1306+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC	NP_001166969.1:n.1306+97_1306+98insGCAGGACTGTCAGATTGTTACCAAAA...
XM_005259913.1:c.1312+97_1312+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC	XP_005259970.1:n.1312+97_1312+98insGCAGGACTGTCAGATTGTTACCAAAA...
XM_011528017.1:c.208+97_208+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC	XP_011526319.1:n.208+97_208+98insGCAGGACTGTCAGATTGTTACCAAAAAA...
XM_005259913.2:c.1312+97_1312+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC	XP_005259970.1:n.1312+97_1312+98insGCAGGACTGTCAGATTGTTACCAAAA...
XM_024451518.1:c.208+97_208+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC	XP_024307286.1:n.208+97_208+98insGCAGGACTGTCAGATTGTTACCAAAAAA...
NM_000528.4:c.1309+97_1309+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC MANE Select	NP_000519.2:n.1309+97_1309+98insGCAGGACTGTCAGATTGTTACCAAAAAAC...
NM_001173498.2:c.1306+97_1306+98insGCAGGACTGTCAGATTGTTACCAAAAAACACAAC	NP_001166969.1:n.1306+97_1306+98insGCAGGACTGTCAGATTGTTACCAAAA...