Canonical Allele Identifier: CA623139993

Gene: CDH1

Linked Data

• dbSNP Id: rs1228181443
• gnomAD v2: 16-68772071-G-GGGGCTGC
• gnomAD v3: 16-68738168-G-GGGGCTGC
• gnomAD v4: 16-68738168-G-GGGGCTGC
• MyVariant Identifiers: chr16:g.68772071_68772072insGGGCTGC (hg19) ; chr16:g.68738168_68738169insGGGCTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68738175_68738181dup , CM000678.2:g.68738175_68738181dup	GRCh38
NC_000016.9:g.68772078_68772084dup , CM000678.1:g.68772078_68772084dup	GRCh37
NC_000016.8:g.67329579_67329585dup	NCBI36
NG_008021.1:g.5884_5890dup , LRG_301:g.5884_5890dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.49-122_49-116dup MANE Select	ENSP00000261769.4:n.49-122_49-116dup
ENST00000261769.9:c.49-122_49-116dup	ENSP00000261769.4:n.49-122_49-116dup
ENST00000422392.6:c.49-122_49-116dup	ENSP00000414946.2:n.49-122_49-116dup
ENST00000566510.5:c.49-122_49-116dup	ENSP00000458139.1:n.49-122_49-116dup
ENST00000566612.5:c.49-122_49-116dup	ENSP00000454782.1:n.49-122_49-116dup
ENST00000611625.4:c.49-122_49-116dup	ENSP00000481063.1:n.49-122_49-116dup
ENST00000612417.4:c.49-122_49-116dup	ENSP00000478360.1:n.49-122_49-116dup
ENST00000621016.4:c.49-122_49-116dup	ENSP00000480664.1:n.49-122_49-116dup
NM_004360.3:c.49-122_49-116dup , LRG_301t1:c.49-122_49-116dup	NP_004351.1:n.49-122_49-116dup
NM_001317184.1:c.49-122_49-116dup	NP_001304113.1:n.49-122_49-116dup
NM_001317185.1:c.-1567-122_-1567-116dup	NP_001304114.1:n.-1567-122_-1567-116dup
NM_001317186.1:c.-1771-122_-1771-116dup	NP_001304115.1:n.-1771-122_-1771-116dup
NM_004360.4:c.49-122_49-116dup	NP_004351.1:n.49-122_49-116dup
NM_004360.5:c.49-122_49-116dup MANE Select	NP_004351.1:n.49-122_49-116dup
NM_001317184.2:c.49-122_49-116dup	NP_001304113.1:n.49-122_49-116dup
NM_001317185.2:c.-1567-122_-1567-116dup	NP_001304114.1:n.-1567-122_-1567-116dup
NM_001317186.2:c.-1771-122_-1771-116dup	NP_001304115.1:n.-1771-122_-1771-116dup