Canonical Allele Identifier: CA323099472

Gene: AP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29367343_29367345dup , CM000684.2:g.29367343_29367345dup	GRCh38
NC_000022.10:g.29763332_29763334dup , CM000684.1:g.29763332_29763334dup	GRCh37
NC_000022.9:g.28093332_28093334dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001127.4:c.-27-71_-27-69dup MANE Select	NP_001118.3:n.-27-71_-27-69dup
ENST00000357586.7:c.-27-71_-27-69dup MANE Select	ENSP00000350199.2:n.-27-71_-27-69dup
NM_001127.3:c.-27-71_-27-69dup	NP_001118.3:n.-27-71_-27-69dup
NM_001166019.1:c.-27-71_-27-69dup	NP_001159491.1:n.-27-71_-27-69dup
NM_001166019.2:c.-27-71_-27-69dup	NP_001159491.1:n.-27-71_-27-69dup
NM_001378562.1:c.-27-71_-27-69dup	NP_001365491.1:n.-27-71_-27-69dup
NM_001378563.1:c.-27-71_-27-69dup	NP_001365492.1:n.-27-71_-27-69dup
NM_001378564.1:c.-92-71_-92-69dup	NP_001365493.1:n.-92-71_-92-69dup
NM_001378565.1:c.-92-71_-92-69dup	NP_001365494.1:n.-92-71_-92-69dup
NM_001378566.1:c.-27-71_-27-69dup	NP_001365495.1:n.-27-71_-27-69dup
NM_145730.2:c.-27-71_-27-69dup	NP_663782.2:n.-27-71_-27-69dup
NM_145730.3:c.-27-71_-27-69dup	NP_663782.2:n.-27-71_-27-69dup
ENST00000317368.11:c.-27-71_-27-69dup	ENSP00000319361.7:n.-27-71_-27-69dup
ENST00000357586.6:c.-27-71_-27-69dup	ENSP00000350199.2:n.-27-71_-27-69dup
ENST00000405198.6:c.-27-71_-27-69dup	ENSP00000384194.2:n.-27-71_-27-69dup
ENST00000415447.5:c.144-7382_144-7380dup	ENSP00000387612.1:n.144-7382_144-7380dup
ENST00000421126.5:c.-27-71_-27-69dup	ENSP00000400022.1:n.-27-71_-27-69dup
ENST00000432560.6:c.-27-71_-27-69dup	ENSP00000400065.2:n.-27-71_-27-69dup
ENST00000473606.1:n.107-74_107-72dup
XR_938146.1:n.1232+6146_1232+6148dup