Canonical Allele Identifier: CA603113624

Gene: TAPBPL

Linked Data

• dbSNP Id: rs1485334737
• gnomAD v2: 12-6580632-T-TCACTATTATCCCTTTCCTGGACTCCATCAGTTGGAAAATTCA
• gnomAD v3: 12-6471466-T-TCACTATTATCCCTTTCCTGGACTCCATCAGTTGGAAAATTCA
• gnomAD v4: 12-6471466-T-TCACTATTATCCCTTTCCTGGACTCCATCAGTTGGAAAATTCA
• MyVariant Identifiers: chr12:g.6580632_6580633insCACTATTATCCCTTTCCTGGACTCCATCAGTTGGAAAATTCA (hg19) ; chr12:g.6471466_6471467insCACTATTATCCCTTTCCTGGACTCCATCAGTTGGAAAATTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471468_6471509dup , CM000674.2:g.6471468_6471509dup	GRCh38
NC_000012.11:g.6580634_6580675dup , CM000674.1:g.6580634_6580675dup	GRCh37
NC_000012.10:g.6450895_6450936dup	NCBI36
NG_042188.1:g.4392_4433dup
NG_042188.2:g.4392_4433dup

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2735_2776dup
XR_001748778.2:n.2732_2773dup