Canonical Allele Identifier: CA2639263423

Gene: ACE

Linked Data

• gnomAD v4: 17-63487169-GCTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487170_63487173del , CM000679.2:g.63487170_63487173del	GRCh38
NC_000017.10:g.61564531_61564534del , CM000679.1:g.61564531_61564534del	GRCh37
NC_000017.9:g.58918263_58918266del	NCBI36
NG_011648.1:g.15098_15101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2305+97_2305+100del MANE Select	ENSP00000290866.4:n.2305+97_2305+100del
ENST00000290863.10:c.583+97_583+100del	ENSP00000290863.6:n.583+97_583+100del
ENST00000290866.9:c.2305+97_2305+100del	ENSP00000290866.4:n.2305+97_2305+100del
ENST00000413513.7:c.583+97_583+100del	ENSP00000392247.3:n.583+97_583+100del
ENST00000428043.5:c.2305+97_2305+100del	ENSP00000397593.2:n.2305+97_2305+100del
ENST00000577647.2:c.583+97_583+100del	ENSP00000464149.1:n.583+97_583+100del
ENST00000578839.5:c.*375+97_*375+100del	ENSP00000462110.2:n.*375+97_*375+100del
ENST00000579204.1:c.486+97_486+100del	ENSP00000464629.1:n.486+97_486+100del
ENST00000579314.5:c.583+97_583+100del	ENSP00000462599.1:n.583+97_583+100del
ENST00000582005.5:c.*225+97_*225+100del	ENSP00000462002.1:n.*225+97_*225+100del
ENST00000582761.1:c.73+97_73+100del	ENSP00000462909.1:n.73+97_73+100del
ENST00000584865.5:n.251+97_251+100del
NM_000789.3:c.2305+97_2305+100del	NP_000780.1:n.2305+97_2305+100del
NM_001178057.1:c.583+97_583+100del	NP_001171528.1:n.583+97_583+100del
NM_152830.2:c.583+97_583+100del	NP_690043.1:n.583+97_583+100del
XM_005257110.1:c.1756+97_1756+100del	XP_005257167.1:n.1756+97_1756+100del
XM_006721737.2:c.643+97_643+100del	XP_006721800.2:n.643+97_643+100del
XM_006721737.3:c.643+97_643+100del	XP_006721800.2:n.643+97_643+100del
NM_000789.4:c.2305+97_2305+100del MANE Select	NP_000780.1:n.2305+97_2305+100del
NM_001178057.2:c.583+97_583+100del	NP_001171528.1:n.583+97_583+100del
NM_152830.3:c.583+97_583+100del	NP_690043.1:n.583+97_583+100del
NM_001382700.1:c.1738+97_1738+100del	NP_001369629.1:n.1738+97_1738+100del
NM_001382701.1:c.1453+97_1453+100del	NP_001369630.1:n.1453+97_1453+100del
NM_001382702.1:c.235+97_235+100del	NP_001369631.1:n.235+97_235+100del
NR_168483.1:n.605+97_605+100del