Canonical Allele Identifier: CA6778616

Gene: MMAB

Linked Data

• ClinVar Variation Id: 307032
• ClinVar RCV Id: RCV000271383
• dbSNP Id: rs34507867
• ExAC: 12:109993254 ATTT / A
• gnomAD v2: 12-109993254-ATTT-A
• gnomAD v3: 12-109555449-ATTT-A
• gnomAD v4: 12-109555449-ATTT-A
• MyVariant Identifiers: chr12:g.109993257_109993259del (hg19) ; chr12:g.109993256_109993258del (hg19) ; chr12:g.109993255_109993257del (hg19) ; chr12:g.109555451_109555453del (hg38) ; chr12:g.109555450_109555452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109555471_109555473del , CM000674.2:g.109555471_109555473del	GRCh38
NC_000012.11:g.109993276_109993278del , CM000674.1:g.109993276_109993278del	GRCh37
NC_000012.10:g.108477659_108477661del	NCBI36
NG_007096.1:g.23046_23048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*1576_*1578del MANE Select	ENSP00000445920.1:n.*1576_*1578del
ENST00000545712.6:c.*1576_*1578del	ENSP00000445920.1:n.*1576_*1578del
NM_052845.3:c.*1576_*1578del	NP_443077.1:n.*1576_*1578del
NR_038118.1:n.2489_2491del
NM_052845.4:c.*1576_*1578del MANE Select	NP_443077.1:n.*1576_*1578del
NR_038118.2:n.2440_2442del