Canonical Allele Identifier: CA2323504476

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658635_12658646delinsTGCAAGCCAATG , CM000681.2:g.12658635_12658646delinsTGCAAGCCAATG	GRCh38
NC_000019.9:g.12769449_12769460delinsTGCAAGCCAATG , CM000681.1:g.12769449_12769460delinsTGCAAGCCAATG	GRCh37
NC_000019.8:g.12630449_12630460delinsTGCAAGCCAATG	NCBI36
NG_008318.1:g.13132_13143delinsCATTGGCTTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1027-136_1027-125delinsCATTGGCTTGCA MANE Select	ENSP00000395473.2:n.1027-136_1027-125delinsCATTGGCTTGCA
ENST00000221363.8:c.1027-139_1027-128delinsCATTGGCTTGCA	ENSP00000221363.4:n.1027-139_1027-128delinsCATTGGCTTGCA
ENST00000456935.6:c.1027-136_1027-125delinsCATTGGCTTGCA	ENSP00000395473.2:n.1027-136_1027-125delinsCATTGGCTTGCA
ENST00000466794.5:n.1009-302_1009-291delinsCATTGGCTTGCA
ENST00000495617.1:n.280+85_280+96delinsCATTGGCTTGCA
NM_000528.3:c.1027-136_1027-125delinsCATTGGCTTGCA	NP_000519.2:n.1027-136_1027-125delinsCATTGGCTTGCA
NM_001173498.1:c.1027-139_1027-128delinsCATTGGCTTGCA	NP_001166969.1:n.1027-139_1027-128delinsCATTGGCTTGCA
XM_005259913.1:c.1027-133_1027-122delinsCATTGGCTTGCA	XP_005259970.1:n.1027-133_1027-122delinsCATTGGCTTGCA
XM_011528017.1:c.9-302_9-291delinsCATTGGCTTGCA	XP_011526319.1:n.9-302_9-291delinsCATTGGCTTGCA
XM_005259913.2:c.1027-133_1027-122delinsCATTGGCTTGCA	XP_005259970.1:n.1027-133_1027-122delinsCATTGGCTTGCA
XM_024451518.1:c.9-302_9-291delinsCATTGGCTTGCA	XP_024307286.1:n.9-302_9-291delinsCATTGGCTTGCA
NM_000528.4:c.1027-136_1027-125delinsCATTGGCTTGCA MANE Select	NP_000519.2:n.1027-136_1027-125delinsCATTGGCTTGCA
NM_001173498.2:c.1027-139_1027-128delinsCATTGGCTTGCA	NP_001166969.1:n.1027-139_1027-128delinsCATTGGCTTGCA