Canonical Allele Identifier: CA2619403395

Gene: NAB2

Linked Data

• gnomAD v4: 12-57094556-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57094559_57094560del , CM000674.2:g.57094559_57094560del	GRCh38
NC_000012.11:g.57488342_57488343del , CM000674.1:g.57488342_57488343del	GRCh37
NC_000012.10:g.55774609_55774610del	NCBI36
NG_021272.1:g.21856_21857del
NG_021272.2:g.42582_42583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300131.8:c.1469-53_1469-52del MANE Select	ENSP00000300131.3:n.1469-53_1469-52del
ENST00000300131.7:c.1469-53_1469-52del	ENSP00000300131.3:n.1469-53_1469-52del
ENST00000342556.6:c.1277-53_1277-52del	ENSP00000341491.6:n.1277-53_1277-52del
NM_005967.3:c.1469-53_1469-52del	NP_005958.1:n.1469-53_1469-52del
XM_005268894.2:c.1277-53_1277-52del	XP_005268951.1:n.1277-53_1277-52del
NM_001330305.1:c.1277-53_1277-52del	NP_001317234.1:n.1277-53_1277-52del
NM_005967.4:c.1469-53_1469-52del MANE Select	NP_005958.1:n.1469-53_1469-52del
NM_001330305.2:c.1277-53_1277-52del	NP_001317234.1:n.1277-53_1277-52del