Canonical Allele Identifier: CA596600751

Gene: ADAM12

Linked Data

• dbSNP Id: rs1371835629
• gnomAD v2: 10-127724683-T-TACATCCTATCATATTAG
• gnomAD v3: 10-126036114-T-TACATCCTATCATATTAG
• gnomAD v4: 10-126036114-T-TACATCCTATCATATTAG
• MyVariant Identifiers: chr10:g.127724683_127724684insACATCCTATCATATTAG (hg19) ; chr10:g.126036114_126036115insACATCCTATCATATTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.126036115_126036131dup , CM000672.2:g.126036115_126036131dup	GRCh38
NC_000010.10:g.127724684_127724700dup , CM000672.1:g.127724684_127724700dup	GRCh37
NC_000010.9:g.127714674_127714690dup	NCBI36
NG_029050.1:g.357428_357444dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000448723.2:c.2529+15_2529+31dup MANE Select	ENSP00000391268.2:n.2529+15_2529+31dup
ENST00000368679.8:c.2538+15_2538+31dup	ENSP00000357668.4:n.2538+15_2538+31dup
NM_001288973.1:c.2529+15_2529+31dup	NP_001275902.1:n.2529+15_2529+31dup
NM_003474.5:c.2538+15_2538+31dup	NP_003465.3:n.2538+15_2538+31dup
XM_017016705.1:c.2070+15_2070+31dup	XP_016872194.1:n.2070+15_2070+31dup
XM_017016706.1:c.1371+15_1371+31dup	XP_016872195.1:n.1371+15_1371+31dup
XM_024448210.1:c.1200+15_1200+31dup	XP_024303978.1:n.1200+15_1200+31dup
NM_001288973.2:c.2529+15_2529+31dup MANE Select	NP_001275902.1:n.2529+15_2529+31dup
NM_003474.6:c.2538+15_2538+31dup	NP_003465.3:n.2538+15_2538+31dup