Canonical Allele Identifier: CA8690150

Gene: NACA2

Linked Data

• dbSNP Id: rs755953267
• ExAC: 17:59667870 CCAAAAAAAGTTGCTTT / C
• gnomAD v2: 17-59667870-CCAAAAAAAGTTGCTTT-C
• gnomAD v4: 17-61590509-CCAAAAAAAGTTGCTTT-C
• MyVariant Identifiers: chr17:g.59667871_59667886del (hg19) ; chr17:g.61590510_61590525del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590512_61590527del , CM000679.2:g.61590512_61590527del	GRCh38
NC_000017.10:g.59667873_59667888del , CM000679.1:g.59667873_59667888del	GRCh37
NC_000017.9:g.57022655_57022670del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.*8_*23del MANE Select	ENSP00000427802.1:n.*8_*23del
ENST00000521764.2:c.*8_*23del	ENSP00000427802.1:n.*8_*23del
NM_199290.3:c.*8_*23del	NP_954984.1:n.*8_*23del
NM_199290.4:c.*8_*23del MANE Select	NP_954984.1:n.*8_*23del