Canonical Allele Identifier: CA727309889

Gene: SRR

Linked Data

• dbSNP Id: rs1443893253
• gnomAD v3: 17-2313111-AAAG-A
• gnomAD v4: 17-2313111-AAAG-A
• MyVariant Identifiers: chr17:g.2216406_2216408del (hg19) ; chr17:g.2313112_2313114del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2313115_2313117del , CM000679.2:g.2313115_2313117del	GRCh38
NC_000017.10:g.2216409_2216411del , CM000679.1:g.2216409_2216411del	GRCh37
NC_000017.9:g.2163159_2163161del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000344595.10:c.-4-2442_-4-2440del MANE Select	ENSP00000339435.5:n.-4-2442_-4-2440del
ENST00000344595.9:c.-4-2442_-4-2440del	ENSP00000339435.5:n.-4-2442_-4-2440del
ENST00000570662.2:c.-4-2442_-4-2440del	ENSP00000460581.2:n.-4-2442_-4-2440del
ENST00000572709.5:c.-4-2442_-4-2440del	ENSP00000458814.1:n.-4-2442_-4-2440del
ENST00000574987.1:c.-279-4755_-279-4753del	ENSP00000461343.1:n.-279-4755_-279-4753de...
ENST00000575840.5:c.-4-2442_-4-2440del	ENSP00000461589.1:n.-4-2442_-4-2440del
ENST00000576620.5:c.-4-2442_-4-2440del	ENSP00000461125.1:n.-4-2442_-4-2440del
ENST00000576848.1:c.-85+9098_-85+9100del	ENSP00000476682.1:n.-85+9098_-85+9100del
NM_001304803.1:c.-279-4755_-279-4753del	NP_001291732.1:n.-279-4755_-279-4753del
NM_021947.2:c.-4-2442_-4-2440del	NP_068766.1:n.-4-2442_-4-2440del
XM_006721565.2:c.-4-2442_-4-2440del	XP_006721628.1:n.-4-2442_-4-2440del
XM_006721566.2:c.-4-2442_-4-2440del	XP_006721629.1:n.-4-2442_-4-2440del
XM_011523974.1:c.-4-2442_-4-2440del	XP_011522276.1:n.-4-2442_-4-2440del
XM_011523975.1:c.-4-2442_-4-2440del	XP_011522277.1:n.-4-2442_-4-2440del
XM_006721565.3:c.-4-2442_-4-2440del	XP_006721628.1:n.-4-2442_-4-2440del
XM_006721566.3:c.-4-2442_-4-2440del	XP_006721629.1:n.-4-2442_-4-2440del
XM_011523974.3:c.-4-2442_-4-2440del	XP_011522276.1:n.-4-2442_-4-2440del
NM_021947.3:c.-4-2442_-4-2440del MANE Select	NP_068766.1:n.-4-2442_-4-2440del