Canonical Allele Identifier: CA166771948

Gene: AHCYL2

Linked Data

• dbSNP Id: rs776582874
• gnomAD v2: 7-129004674-AT-A
• gnomAD v3: 7-129364833-AT-A
• gnomAD v4: 7-129364833-AT-A
• MyVariant Identifiers: chr7:g.129004675del (hg19) ; chr7:g.129364834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129364835del , CM000669.2:g.129364835del	GRCh38
NC_000007.13:g.129004676del , CM000669.1:g.129004676del	GRCh37
NC_000007.12:g.128791912del	NCBI36
NG_029180.1:g.144822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325006.8:c.364-14803del MANE Select	ENSP00000315931.3:n.364-14803del
ENST00000325006.7:c.364-14803del	ENSP00000315931.3:n.364-14803del
ENST00000446544.6:c.364-14806del	ENSP00000413639.2:n.364-14806del
ENST00000461161.5:n.159+13174del
NM_001130720.2:c.364-14806del	NP_001124192.1:n.364-14806del
NM_015328.3:c.364-14803del	NP_056143.1:n.364-14803del
XR_927961.1:n.86-1361del
XM_017011904.1:c.-255-14806del	XP_016867393.1:n.-255-14806del
XM_017011906.1:c.-258-14803del	XP_016867395.1:n.-258-14803del
NM_001130720.3:c.364-14806del	NP_001124192.1:n.364-14806del
NM_015328.4:c.364-14803del MANE Select	NP_056143.1:n.364-14803del
NM_001393387.1:c.364-14803del	NP_001380316.1:n.364-14803del
NR_171671.1:n.411-12707del