Canonical Allele Identifier: CA6778613

Gene: MMAB

Linked Data

• ClinVar Variation Id: 307030
• ClinVar RCV Id: RCV000301951
• dbSNP Id: rs34507867
• ExAC: 12:109993254 AT / A
• gnomAD v2: 12-109993254-AT-A
• gnomAD v3: 12-109555449-AT-A
• gnomAD v4: 12-109555449-AT-A
• MyVariant Identifiers: chr12:g.109993259del (hg19) ; chr12:g.109993258del (hg19) ; chr12:g.109993255del (hg19) ; chr12:g.109555453del (hg38) ; chr12:g.109555450del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109555473del , CM000674.2:g.109555473del	GRCh38
NC_000012.11:g.109993278del , CM000674.1:g.109993278del	GRCh37
NC_000012.10:g.108477661del	NCBI36
NG_007096.1:g.23048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*1578del MANE Select	ENSP00000445920.1:n.*1578del
ENST00000545712.6:c.*1578del	ENSP00000445920.1:n.*1578del
NM_052845.3:c.*1578del	NP_443077.1:n.*1578del
NR_038118.1:n.2491del
NM_052845.4:c.*1578del MANE Select	NP_443077.1:n.*1578del
NR_038118.2:n.2442del