Canonical Allele Identifier: CA973956397
Gene: PAM16 HGNC NCBI
CORO7-PAM16 HGNC NCBI

Linked Data

dbSNP Id: rs2053632730
gnomAD v3: 16-4340840-TCCC-T
gnomAD v4: 16-4340840-TCCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4340843_4340845del , CM000678.2:g.4340843_4340845del GRCh38
NC_000016.9:g.4390844_4390846del , CM000678.1:g.4390844_4390846del GRCh37
NC_000016.8:g.4330845_4330847del NCBI36
NG_016391.1:g.13620_13622del
NG_016391.2:g.31083_31085del
NG_054893.1:g.15530_15532del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318059.8:c.291+77_291+79del (PAM16) MANE Select ENSP00000315693.3:n.291+77_291+79del
ENST00000318059.7:c.291+77_291+79del (PAM16) ENSP00000315693.3:n.291+77_291+79del
ENST00000571178.1:c.265+77_265+79del (PAM16)
ENST00000571941.5:c.351+77_351+79del (PAM16) ENSP00000460708.1:n.351+77_351+79del
ENST00000571986.5:c.*184+77_*184+79del (PAM16) ENSP00000459802.1:n.*184+77_*184+79del
ENST00000572467.5:c.3060+77_3060+79del (CORO7-PAM16) ENSP00000460885.1:n.3060+77_3060+79del
ENST00000573236.5:n.547+77_547+79del (PAM16)
ENST00000573450.5:n.424+77_424+79del (PAM16)
ENST00000573553.5:c.351+77_351+79del (PAM16) ENSP00000459955.1:n.351+77_351+79del
ENST00000573614.5:n.495+77_495+79del (PAM16)
ENST00000575334.5:c.*1586+77_*1586+79del (CORO7-PAM16) ENSP00000458607.1:n.*1586+77_*1586+79del
ENST00000575636.5:c.*184+77_*184+79del (PAM16) ENSP00000458914.1:n.*184+77_*184+79del
ENST00000575848.5:c.327+77_327+79del (PAM16) ENSP00000458412.1:n.327+77_327+79del
ENST00000576217.1:c.291+77_291+79del (PAM16) ENSP00000461047.1:n.291+77_291+79del
ENST00000577031.5:c.291+77_291+79del (PAM16) ENSP00000459113.1:n.291+77_291+79del
NM_001201479.1:c.3060+77_3060+79del (CORO7-PAM16) NP_001188408.1:n.3060+77_3060+79del
NM_016069.9:c.291+77_291+79del (PAM16) NP_057153.8:n.291+77_291+79del
NM_016069.10:c.291+77_291+79del (PAM16) NP_057153.8:n.291+77_291+79del
NM_016069.11:c.291+77_291+79del (PAM16) MANE Select NP_057153.8:n.291+77_291+79del
NM_001201479.2:c.3060+77_3060+79del (CORO7-PAM16) NP_001188408.1:n.3060+77_3060+79del
Search 100 bp 5'
Search 100 bp 3'