Canonical Allele Identifier: CA993646229

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12657122-GGCCCCGCCCCGTTCCGGTCTCTGTCCCGCCTCCCTCAAGAGTCGCCCCAAAACCCCTTCTAGCCCCACCCTGCTGCCCTTGACTATACCCCATAGCTGTCTCCGCCTCCTCTTGCCCACGCCCCGCCTCCTTCCCCCCTCCAAA-G
• gnomAD v4: 19-12657122-GGCCCCGCCCCGTTCCGGTCTCTGTCCCGCCTCCCTCAAGAGTCGCCCCAAAACCCCTTCTAGCCCCACCCTGCTGCCCTTGACTATACCCCATAGCTGTCTCCGCCTCCTCTTGCCCACGCCCCGCCTCCTTCCCCCCTCCAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657138_12657281del , CM000681.2:g.12657138_12657281del	GRCh38
NC_000019.9:g.12767952_12768095del , CM000681.1:g.12767952_12768095del	GRCh37
NC_000019.8:g.12628952_12629095del	NCBI36
NG_008318.1:g.14512_14655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+180_1420-67del MANE Select	ENSP00000395473.2:n.1419+180_1420-67del
ENST00000221363.8:c.1416+180_1417-67del	ENSP00000221363.4:n.1416+180_1417-67del
ENST00000456935.6:c.1419+180_1420-67del	ENSP00000395473.2:n.1419+180_1420-67del
ENST00000466794.5:n.1318+180_1319-67del
ENST00000495617.1:n.595+180_596-67del
ENST00000593686.1:c.29+180_30-67del
ENST00000595880.5:n.16+98_17-67del
NM_000528.3:c.1419+180_1420-67del	NP_000519.2:n.1419+180_1420-67del
NM_001173498.1:c.1416+180_1417-67del	NP_001166969.1:n.1416+180_1417-67del
XM_005259913.1:c.1422+180_1423-67del	XP_005259970.1:n.1422+180_1423-67del
XM_011528017.1:c.318+180_319-67del	XP_011526319.1:n.318+180_319-67del
XM_005259913.2:c.1422+180_1423-67del	XP_005259970.1:n.1422+180_1423-67del
XM_024451518.1:c.318+180_319-67del	XP_024307286.1:n.318+180_319-67del
NM_000528.4:c.1419+180_1420-67del MANE Select	NP_000519.2:n.1419+180_1420-67del
NM_001173498.2:c.1416+180_1417-67del	NP_001166969.1:n.1416+180_1417-67del