Canonical Allele Identifier: CA847426286

Gene: ASAP1

Linked Data

• dbSNP Id: rs1351018746
• gnomAD v3: 8-130080287-AAAG-A
• gnomAD v4: 8-130080287-AAAG-A
• MyVariant Identifiers: chr8:g.131092534_131092536del (hg19) ; chr8:g.130080288_130080290del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.130080293_130080295del , CM000670.2:g.130080293_130080295del	GRCh38
NC_000008.10:g.131092539_131092541del , CM000670.1:g.131092539_131092541del	GRCh37
NC_000008.9:g.131161721_131161723del	NCBI36
NG_030354.1:g.368371_368373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518721.6:c.2573-319_2573-317del MANE Select	ENSP00000429900.1:n.2573-319_2573-317del
ENST00000357668.2:c.2552-319_2552-317del	ENSP00000350297.2:n.2552-319_2552-317del
ENST00000518721.5:c.2573-319_2573-317del	ENSP00000429900.1:n.2573-319_2573-317del
ENST00000519483.5:c.642-319_642-317del
ENST00000520189.1:n.493-319_493-317del
ENST00000521075.5:c.*2555-319_*2555-317del	ENSP00000428463.1:n.*2555-319_*2555-317del
ENST00000524124.5:c.2034-319_2034-317del
NM_001247996.1:c.2552-319_2552-317del	NP_001234925.1:n.2552-319_2552-317del
NM_018482.3:c.2573-319_2573-317del	NP_060952.2:n.2573-319_2573-317del
XM_005250925.1:c.2582-319_2582-317del	XP_005250982.1:n.2582-319_2582-317del
XM_006716563.2:c.2582-319_2582-317del	XP_006716626.1:n.2582-319_2582-317del
XM_006716564.1:c.2561-319_2561-317del	XP_006716627.1:n.2561-319_2561-317del
XM_006716565.2:c.2414-319_2414-317del	XP_006716628.1:n.2414-319_2414-317del
XM_006716566.1:c.2411-319_2411-317del	XP_006716629.1:n.2411-319_2411-317del
XM_006716567.2:c.2405-319_2405-317del	XP_006716630.1:n.2405-319_2405-317del
XM_011517052.1:c.2582-319_2582-317del	XP_011515354.1:n.2582-319_2582-317del
XM_011517053.1:c.2561-319_2561-317del	XP_011515355.1:n.2561-319_2561-317del
NM_001362924.1:c.2582-319_2582-317del	NP_001349853.1:n.2582-319_2582-317del
NM_001362925.1:c.2411-319_2411-317del	NP_001349854.1:n.2411-319_2411-317del
NM_001362926.1:c.2402-319_2402-317del	NP_001349855.1:n.2402-319_2402-317del
XM_006716563.3:c.2582-319_2582-317del	XP_006716626.1:n.2582-319_2582-317del
XM_006716565.3:c.2414-319_2414-317del	XP_006716628.1:n.2414-319_2414-317del
XM_011517052.2:c.2582-319_2582-317del	XP_011515354.1:n.2582-319_2582-317del
XM_017013467.2:c.2447-319_2447-317del	XP_016868956.1:n.2447-319_2447-317del
XM_017013468.1:c.2405-319_2405-317del	XP_016868957.1:n.2405-319_2405-317del
NM_018482.4:c.2573-319_2573-317del MANE Select	NP_060952.2:n.2573-319_2573-317del
NM_001362925.2:c.2411-319_2411-317del	NP_001349854.1:n.2411-319_2411-317del
NM_001362926.2:c.2402-319_2402-317del	NP_001349855.1:n.2402-319_2402-317del
NM_001247996.2:c.2552-319_2552-317del	NP_001234925.1:n.2552-319_2552-317del