Canonical Allele Identifier: CA1082740494

Gene: SPINK5

Linked Data

• dbSNP Id: rs1753813642
• gnomAD v3: 5-148107492-CTGACAT-C
• gnomAD v4: 5-148107492-CTGACAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107494_148107499del , CM000667.2:g.148107494_148107499del	GRCh38
NC_000005.9:g.147487057_147487062del , CM000667.1:g.147487057_147487062del	GRCh37
NC_000005.8:g.147467250_147467255del	NCBI36
NG_009633.1:g.48523_48528del , LRG_110:g.48523_48528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1216+330_1216+335del
ENST00000256084.8:c.1607+330_1607+335del MANE Select	ENSP00000256084.7:n.1607+330_1607+335del
ENST00000256084.7:c.1607+330_1607+335del	ENSP00000256084.7:n.1607+330_1607+335del
ENST00000359874.7:c.1607+330_1607+335del	ENSP00000352936.3:n.1607+330_1607+335del
ENST00000398454.5:c.1607+330_1607+335del	ENSP00000381472.1:n.1607+330_1607+335del
ENST00000507988.5:n.1771+330_1771+335del
ENST00000508733.5:c.1550+330_1550+335del	ENSP00000421519.1:n.1550+330_1550+335del
NM_001127698.1:c.1607+330_1607+335del	NP_001121170.1:n.1607+330_1607+335del
NM_001127699.1:c.1607+330_1607+335del	NP_001121171.1:n.1607+330_1607+335del
NM_006846.3:c.1607+330_1607+335del , LRG_110t1:c.1607+330_1607+335del	NP_006837.2:n.1607+330_1607+335del
XM_011537550.1:c.1550+330_1550+335del	XP_011535852.1:n.1550+330_1550+335del
XM_011537551.1:c.1523+330_1523+335del	XP_011535853.1:n.1523+330_1523+335del
XM_011537551.2:c.1523+330_1523+335del	XP_011535853.1:n.1523+330_1523+335del
NM_001127698.2:c.1607+330_1607+335del	NP_001121170.1:n.1607+330_1607+335del
NM_001127699.2:c.1607+330_1607+335del	NP_001121171.1:n.1607+330_1607+335del
NM_006846.4:c.1607+330_1607+335del MANE Select	NP_006837.2:n.1607+330_1607+335del