Canonical Allele Identifier: CA2652532340

Gene: ASIP AHCY

Linked Data

• gnomAD v4: 20-34269017-G-GCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34269018_34269019insCCC , CM000682.2:g.34269018_34269019insCCC	GRCh38
NC_000020.10:g.32856824_32856825insCCC , CM000682.1:g.32856824_32856825insCCC	GRCh37
NC_000020.9:g.32320485_32320486insCCC	NCBI36
NG_011439.1:g.13654_13655insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374954.4:c.250_251insCCC (ASIP) MANE Select	ENSP00000364092.3:p.Val83_Arg84insPro
ENST00000374954.3:c.250_251insCCC (ASIP)	ENSP00000364092.3:p.Val83_Arg84insPro
ENST00000568305.5:c.250_251insCCC (ASIP)	ENSP00000454804.1:p.Val83_Arg84insPro
NM_001672.2:c.250_251insCCC (ASIP)	NP_001663.2:p.Val83_Arg84insPro
XM_005260412.2:c.262_263insCCC (ASIP)	XP_005260469.1:p.Val87_Arg88insPro
XM_011528657.1:c.*7+12009_*7+12010insGGG (AHCY)	XP_011526959.1:n.*7+12009_*7+12010insGGG
XM_011528820.1:c.250_251insCCC (ASIP)	XP_011527122.1:p.Val83_Arg84insPro
XM_011528821.1:c.250_251insCCC (ASIP)	XP_011527123.1:p.Val83_Arg84insPro
XM_011528822.1:c.250_251insCCC (ASIP)	XP_011527124.1:p.Val83_Arg84insPro
XM_011528823.1:c.250_251insCCC (ASIP)	XP_011527125.1:p.Val83_Arg84insPro
XM_005260412.3:c.262_263insCCC (ASIP)	XP_005260469.1:p.Val87_Arg88insPro
XM_011528657.2:c.*7+12009_*7+12010insGGG (AHCY)	XP_011526959.2:n.*7+12009_*7+12010insGGG
XM_011528820.2:c.250_251insCCC (ASIP)	XP_011527122.1:p.Val83_Arg84insPro
NM_001385218.1:c.250_251insCCC (ASIP)	NP_001372147.1:p.Val83_Arg84insPro
NM_001672.3:c.250_251insCCC (ASIP) MANE Select	NP_001663.2:p.Val83_Arg84insPro