Canonical Allele Identifier: CA5740155

Gene: ADAM12

Linked Data

• dbSNP Id: rs751421187
• ExAC: 10:127724690 T / TATCA
• gnomAD v2: 10-127724690-T-TATCA
• gnomAD v3: 10-126036121-T-TATCA
• gnomAD v4: 10-126036121-T-TATCA
• MyVariant Identifiers: chr10:g.127724690_127724691insATCA (hg19) ; chr10:g.126036121_126036122insATCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.126036122_126036125dup , CM000672.2:g.126036122_126036125dup	GRCh38
NC_000010.10:g.127724691_127724694dup , CM000672.1:g.127724691_127724694dup	GRCh37
NC_000010.9:g.127714681_127714684dup	NCBI36
NG_029050.1:g.357434_357437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448723.2:c.2529+21_2529+24dup MANE Select	ENSP00000391268.2:n.2529+21_2529+24dup
ENST00000368679.8:c.2538+21_2538+24dup	ENSP00000357668.4:n.2538+21_2538+24dup
NM_001288973.1:c.2529+21_2529+24dup	NP_001275902.1:n.2529+21_2529+24dup
NM_003474.5:c.2538+21_2538+24dup	NP_003465.3:n.2538+21_2538+24dup
XM_017016705.1:c.2070+21_2070+24dup	XP_016872194.1:n.2070+21_2070+24dup
XM_017016706.1:c.1371+21_1371+24dup	XP_016872195.1:n.1371+21_1371+24dup
XM_024448210.1:c.1200+21_1200+24dup	XP_024303978.1:n.1200+21_1200+24dup
NM_001288973.2:c.2529+21_2529+24dup MANE Select	NP_001275902.1:n.2529+21_2529+24dup
NM_003474.6:c.2538+21_2538+24dup	NP_003465.3:n.2538+21_2538+24dup