Canonical Allele Identifier: CA727309805

Gene: SRR

Linked Data

• dbSNP Id: rs1362671410
• gnomAD v3: 17-2312923-AATT-A
• gnomAD v4: 17-2312923-AATT-A
• MyVariant Identifiers: chr17:g.2216218_2216220del (hg19) ; chr17:g.2312924_2312926del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2312930_2312932del , CM000679.2:g.2312930_2312932del	GRCh38
NC_000017.10:g.2216224_2216226del , CM000679.1:g.2216224_2216226del	GRCh37
NC_000017.9:g.2162974_2162976del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344595.10:c.-4-2627_-4-2625del MANE Select	ENSP00000339435.5:n.-4-2627_-4-2625del
ENST00000344595.9:c.-4-2627_-4-2625del	ENSP00000339435.5:n.-4-2627_-4-2625del
ENST00000570662.2:c.-4-2627_-4-2625del	ENSP00000460581.2:n.-4-2627_-4-2625del
ENST00000572709.5:c.-4-2627_-4-2625del	ENSP00000458814.1:n.-4-2627_-4-2625del
ENST00000574987.1:c.-279-4940_-279-4938del	ENSP00000461343.1:n.-279-4940_-279-4938del
ENST00000575840.5:c.-4-2627_-4-2625del	ENSP00000461589.1:n.-4-2627_-4-2625del
ENST00000576620.5:c.-4-2627_-4-2625del	ENSP00000461125.1:n.-4-2627_-4-2625del
ENST00000576848.1:c.-85+8913_-85+8915del	ENSP00000476682.1:n.-85+8913_-85+8915del
NM_001304803.1:c.-279-4940_-279-4938del	NP_001291732.1:n.-279-4940_-279-4938del
NM_021947.2:c.-4-2627_-4-2625del	NP_068766.1:n.-4-2627_-4-2625del
XM_006721565.2:c.-4-2627_-4-2625del	XP_006721628.1:n.-4-2627_-4-2625del
XM_006721566.2:c.-4-2627_-4-2625del	XP_006721629.1:n.-4-2627_-4-2625del
XM_011523974.1:c.-4-2627_-4-2625del	XP_011522276.1:n.-4-2627_-4-2625del
XM_011523975.1:c.-4-2627_-4-2625del	XP_011522277.1:n.-4-2627_-4-2625del
XM_006721565.3:c.-4-2627_-4-2625del	XP_006721628.1:n.-4-2627_-4-2625del
XM_006721566.3:c.-4-2627_-4-2625del	XP_006721629.1:n.-4-2627_-4-2625del
XM_011523974.3:c.-4-2627_-4-2625del	XP_011522276.1:n.-4-2627_-4-2625del
NM_021947.3:c.-4-2627_-4-2625del MANE Select	NP_068766.1:n.-4-2627_-4-2625del