Canonical Allele Identifier: CA1082740438

Gene: SPINK5

Linked Data

• dbSNP Id: rs1753807780
• gnomAD v3: 5-148107241-TGTAGA-T
• gnomAD v4: 5-148107241-TGTAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107245_148107249del , CM000667.2:g.148107245_148107249del	GRCh38
NC_000005.9:g.147486808_147486812del , CM000667.1:g.147486808_147486812del	GRCh37
NC_000005.8:g.147467001_147467005del	NCBI36
NG_009633.1:g.48274_48278del , LRG_110:g.48274_48278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1216+81_1216+85del
ENST00000256084.8:c.1607+81_1607+85del MANE Select	ENSP00000256084.7:n.1607+81_1607+85del
ENST00000256084.7:c.1607+81_1607+85del	ENSP00000256084.7:n.1607+81_1607+85del
ENST00000359874.7:c.1607+81_1607+85del	ENSP00000352936.3:n.1607+81_1607+85del
ENST00000398454.5:c.1607+81_1607+85del	ENSP00000381472.1:n.1607+81_1607+85del
ENST00000507988.5:n.1771+81_1771+85del
ENST00000508733.5:c.1550+81_1550+85del	ENSP00000421519.1:n.1550+81_1550+85del
NM_001127698.1:c.1607+81_1607+85del	NP_001121170.1:n.1607+81_1607+85del
NM_001127699.1:c.1607+81_1607+85del	NP_001121171.1:n.1607+81_1607+85del
NM_006846.3:c.1607+81_1607+85del , LRG_110t1:c.1607+81_1607+85del	NP_006837.2:n.1607+81_1607+85del
XM_011537550.1:c.1550+81_1550+85del	XP_011535852.1:n.1550+81_1550+85del
XM_011537551.1:c.1523+81_1523+85del	XP_011535853.1:n.1523+81_1523+85del
XM_011537551.2:c.1523+81_1523+85del	XP_011535853.1:n.1523+81_1523+85del
NM_001127698.2:c.1607+81_1607+85del	NP_001121170.1:n.1607+81_1607+85del
NM_001127699.2:c.1607+81_1607+85del	NP_001121171.1:n.1607+81_1607+85del
NM_006846.4:c.1607+81_1607+85del MANE Select	NP_006837.2:n.1607+81_1607+85del