Canonical Allele Identifier: CA2675856499

Gene: SPINK5

Linked Data

• gnomAD v4: 5-148107281-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107283del , CM000667.2:g.148107283del	GRCh38
NC_000005.9:g.147486846del , CM000667.1:g.147486846del	GRCh37
NC_000005.8:g.147467039del	NCBI36
NG_009633.1:g.48312del , LRG_110:g.48312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1216+119del
ENST00000256084.8:c.1607+119del MANE Select	ENSP00000256084.7:n.1607+119del
ENST00000256084.7:c.1607+119del	ENSP00000256084.7:n.1607+119del
ENST00000359874.7:c.1607+119del	ENSP00000352936.3:n.1607+119del
ENST00000398454.5:c.1607+119del	ENSP00000381472.1:n.1607+119del
ENST00000507988.5:n.1771+119del
ENST00000508733.5:c.1550+119del	ENSP00000421519.1:n.1550+119del
NM_001127698.1:c.1607+119del	NP_001121170.1:n.1607+119del
NM_001127699.1:c.1607+119del	NP_001121171.1:n.1607+119del
NM_006846.3:c.1607+119del , LRG_110t1:c.1607+119del	NP_006837.2:n.1607+119del
XM_011537550.1:c.1550+119del	XP_011535852.1:n.1550+119del
XM_011537551.1:c.1523+119del	XP_011535853.1:n.1523+119del
XM_011537551.2:c.1523+119del	XP_011535853.1:n.1523+119del
NM_001127698.2:c.1607+119del	NP_001121170.1:n.1607+119del
NM_001127699.2:c.1607+119del	NP_001121171.1:n.1607+119del
NM_006846.4:c.1607+119del MANE Select	NP_006837.2:n.1607+119del